1998 promises to be both an exciting and challenging year for AMP. As a first order of business for 1998, I would like to officially thank our Past-President, Peggy Gulley, MD, for her outstanding commitment to our organization in 1997. Additionally, I would like to thank Rita Braziel, MD, who did an outstanding job as Program Chair for our 1997 Annual Meeting in San Diego. Dr. Carleton Garrett and his team are already hard at work in planning our 1998 Annual Meeting to be held November 6-8 at the Crystal City Hyatt, just across the Potomac River from Georgetown in the Washington DC area.
1998 marks the beginning of our third year as an official society. To remind all of us of our overall goals, the AMP was initiated in 1993-94 to "promote clinical practice, basic research, and education in molecular pathology." Our specific aims remain: 1) to provide a forum for the practical exchange of new scientific knowledge, new technologic advances, and new molecular diagnostic approaches in molecular medicine and pathology, concentrating in the areas of human oncology (hematopathology and solid tumors), infectious disease, and genetics (inherited disease, genetic predisposition, HLA, and identity determination); 2) to develop guidelines and recommendations for appropriate training and education in molecular pathology for technical personnel, MD residents and fellows, and laboratory directors; 3) to develop consensus diagnostic approaches, protocols, and algorithms for the use of molecular diagnostics in medical practice; and 4) to participate and influence national policy regarding various credentialling and regulatory issues including laboratory certification, new test development and approval, reimbursement of molecular tests, and various ethical and social issues regarding the ethics of molecular diagnostic pathology practice.
To continue our rapid progress in addressing our organization's aims, I and the AMP Council plan to tackle the following major issues in 1998:
1. Finalization of a Formal Journal Affiliation Agreement for AMP. To provide a public and international forum for the recognition of our Society, to provide a consistent venue for the publication of the scientific articles from the molecular pathology community and the scientific abstracts and content from our annual meeting, and to provide a forum for stating our views on issues of laboratory, public and medical policy, it is essential that the AMP establish a formal journal affiliation. During the past year our Journal Affiliation Committee and a sub-committee of the AMP Council (consisting of Past-President Jeff Kant, '97 President Peggy Gulley, and '98 President, Cheryl Willman) have been developing a plan and negotiating with several established pathology journals. As described below by Dr. Gulley, we are now entering the final stages of negotiation with the American Journal of Pathology (and its parent organization, the American Society for Investigative Pathology; ASIP) to consider establishing a new AMP journal in molecular diagnostics. If these negotiations continue to progress in their current positive fashion, we anticipate the formalization of this new journal in early '98 with the identification of a Senior Editor and Associate Editor for each of our areas of emphasis in molecular diagnostic practice.
2. To Increase both the AMP Membership & our Members' Involvement in the Organization's Activities. We currently number 461 members, including 349 individuals with MD and/or PhD degrees, 63 associate members who are laboratory personnel, and 49 trainees. While the majority of our members are US citizens, we have a large number of members from Canada, Europe, Asia, and Africa. During the coming year, the AMP Council will consider a number of initiatives to increase our national and international membership from academia, clinical practice, and industry, and to maintain and increase the involvement of our members in the activities of our organization.
3. To Continue Influencing National Efforts towards Certification & Training of Molecular Diagnostic Laboratory Directors & Laboratory Personnel. 1998 promises to be a critical year for continuing discussions between the American Board of Pathology (ABP) and the American Board of Medical Genetics (ABMG) for the creation and approval of a new joint specialty, board examination, and training program in Molecular Genetic Pathology for MDs. PhDs may currently be certified by ABMG [Ed. Note: & by ABB & NCA] for molecular diagnostic practice. AMP will closely monitor and participate in these dialogs and will monitor and participate in creditialing efforts by other national organizations for PhDs and laboratory personnel. Under Dr. Tom Williams' direction, the '97 Training and Education Committee has completed its survey of residency training programs and has now developed its first draft of a series of recommendations for training in molecular pathology. We hope to publish these recommendations soon in our affiliated journal; our membership will have extensive opportunity for comment and discussion.
4. To Continue Participation in Development & Implementation of National Policies Regarding Regulatory Issues & the Practice of Molecular Pathology. Under the leadership of Dr. Rick Press, our Clinical Practice Committee will continue to focus on national policy issues regarding the development of algorithms for molecular testing, the development of "in-house" molecular tests, and several regulatory issues regarding the practice of molecular pathology. Several of our AMP members participate in many national organizations that are influencing molecular pathology practice, including the CAP, NCCLS, ELSI, the National Bioethics Advisory Commission, AACC, and other organizations. AMP Council will continue to monitor and coordinate the activities and issues regarding these efforts and will regularly update the membership.
5. To Continue to Formalize our Association and Increase its National and International Recognition and Integrity. The AMP Council will continue promoting the recognition of AMP and its membership to other national pathology and medical organizations by applying for membership on the Intersociety Council of Pathology and as a cooperating Society of the ABP. We will continue our efforts for recognition on the national scene as we participate in discussions of important regulatory issues.
I invite your hard work and participation in our activities for 1998! We need all of your input and ideas.
Cheryl L. Willman, MD, AMP President
UNM Cancer Center
cwillman@cobra.unm.edu
JOURNAL AFFILIATION
The AMP Journal Affiliation Committee recommended pursuing discussions with the American Journal of Pathology to determine whether a dedicated subsection in AJP or a companion (part B) journal might best serve AMP members' needs. These needs include publication of abstracts from our annual meeting, possibly offering subscriptions as a benefit of AMP membership, and providing a forum for communication on subjects of interest to our members. Several ways in which the AJP might fulfill these needs were discussed with AMP members at the annual business meeting last November. An AMP Journal Negotiation Committee has been formed to further develop a proposal for affiliation. If negotiations are successful, we expect to seek an Editor for this publication in the coming months. AMP members are encouraged to provide feedback to the members of the negotiating team: Peggy Gulley, Jeff Kant, and Cheryl Willman
Contributed by: Peggy Gulley, MD
Department of Pathology
University of Texas Health Sciences Center
San Antonio, TX
gulleym@uthscsa.edu
CLINICAL PRACTICE COMMITTEE
During the last quarter of 1997, there was a flurry of activity of governmental and regulatory issues that may affect the practice of molecular pathology. The '97 AMP clinical practice committee (Rick Press, Adam Bagg, Rick Nolte, Syd Finkelstein, Rob Wilson, Debra Leonard) has been devoting its efforts to the following major concerns:
Task Force on Genetic Testing Final Report
The NIH-DOE-ELSI-sponsored Task Force on Genetic Testing has issued its final committee report: "Promoting Safe & Effective Genetic Testing in the US". It is available electronically (www.nhgri.nih.gov/ELSI/TFGT_final/) or in hard copy form (180 page report available through the NHGRI of the NIH: 301-402-0911). As most of you know, the preliminary TFGT report, issued in early 1997, proposed many restrictive regulations on laboratories performing predictive genetic tests. AMP, CAP, and other professional organizations expressed strong opposition to these excessive (we believe) regulations. As you may have predicted, some of these restrictions have been specifically eliminated from the final report, while others remain. TFGT final report issues of particular interest to molecular pathologists include:
"Good News" Items
1) The final report has backed away from its previous proposal to create a new federal bureaucracy to rate the "stringency" level of a genetic test, which would have determined its degree of review "scrutiny".
2) The final report has also backed away from its previous proposal to create a new (non-CAP) national accreditation program for genetic testing laboratories.
3) The committee calls on the HHS secretary "to establish an advisory committee on genetic testing" to be composed of "the stakeholders in genetic testing, including professional societies (general medicine, genetics, pathology, genetic counseling), the biotechnology industry, consumers, insurers, as well as other interested parties". Thus, we will hopefully be represented on this future policy-making committee.
4) "tests for somatic (as opposed to heritable) mutations and testing for forensic purposes" are not included in the definition of "genetic test", and are thus presumably exempt from these recommendations. Although not specifically mentioned, tests to detect the nucleic acids of infectious pathogens are presumably also excluded from these recommendations.
"Bad News" Items
1) The final report continues to recommend that, for each genetic test offered, a testing lab should provide "data to establish the clinical validity of genetic tests", and that these data "must be collected under investigative protocols", i.e., with official IRB approval. Under these regulations, clinical labs would be required to seek IRB approval before offering a genetic test as a routine clinical service. This would apply to each individual genetic test being offered (and perhaps even to each different clinical application of the same genetic test).
2) The report recommends that, before a new genetic test is placed into clinical practice, "test developers must submit their validation and clinical utility data to internal as well as an independent external review." "Independent external review" is neither specified nor defined.
3) The report calls for creation of a new genetics specialty under CLIA '88 to regulate predictive genetic tests. If approved, this would mean that "predictive genetic tests" would be regulated differently (presumably more stringently??) than other diagnostic laboratory tests (which apparently are not adequately regulated??).
The final report is now in the hands of the Secretary of Health & Human Services. Its regulatory "teeth" thus have not been officially determined. As always, the AMP Clinical Practice Committee welcomes your feedback on this and other exciting regulatory issues.
FDA's final ruling on ASRs
The FDA has finally issued their "final rule" on the issue of regulation of "analyte-specific reagents" (ASRs) used by diagnostic testing labs. It can be found in the Federal register (vol 62, No. 225, November 21, 1997, p. 62243; or at
www.access.gpo.gov/nara/index.html.
Overall, this newly published "final rule" is quite favorable for us, the practitioners of molecular pathology. According to the FDA, most ASRs (the individual reagents used in in-house-developed tests) will be regulated as Class I devices (general controls), which is the lowest regulatory level. The FDA panel "believed that general controls are sufficient to provide reasonable assurance of the safety and effectiveness of these ASRs". These Class I ASR's will be specifically exempt from premarket notification (510k) requirements. Exceptions will include ASRs used in blood-banking tests (designated class II, special controls) and those used for the diagnosis of contagious fatal diseases (specifically HIV, MTB-designated class III, premarket approval). The rule restricts the sale of ASRs to clinical labs approved by CLIA for "high-complexity testing". The FDA also specifically states that they have no intent to regulate ASRs used in genetic tests any differently than other ASRs. A potential downside to this otherwise favorable "final rule" is FDA's recommendation that "a disclaimer be appended to the test report by the lab using the ASR", stating that the test was self-developed and not cleared or approved by the FDA. Many thanks to Debra Leonard and the members of the 1996 AMP clinical practice committee (Kaul, Whittaker, Shrimpton, Farkas) who worked so hard on this issue. Congratulations to them and to all of us for shaking off yet another attempt to regulate us out of business.
The "Genetic Information Non-discrimination in Health Insurance Act"
AMP recently drafted an official letter in support of the "Genetic Information Non-discrimination in Health Insurance Act" proposed in the US Congress by Representative Louise Slaughter (D-NY). This bill would specifically restrict group health plans from denying, canceling, refusing to renew, or changing the terms, premiums, or conditions of health insurance coverage based on genetic information. The bill's sole intent (and a noble one in our opinion) is to outlaw genetic discrimination in the health insurance industry. As pathologists and "genetic testers", the Clinical Practice Committee strongly endorses this bill. As Congress re-assembles this winter, we hope this bill will be high on its priority list.
1) Creating Clinical "Practice Guidelines" for our Most Popular Tests. The initial AMP-sponsored practice guidelines addressing factor V R506Q (Leiden), p53 genotyping, HIV viral load, and IgH PCR are slowly progressing. The intent of these guidelines is to summarize key issues (and recommendations) concerning the clinical utility of these tests. We look forward to your specific comments on these guidelines. Only then will they be true consensus statements.
2) Revising the AMP Test Directory: We plan an update to the '96 AMP test directory listing the test menus of our member laboratories. Dr. Wasserman has already started the process. Open questions concern where and how to publish this directory (on the web perhaps?), and whether to share the information with other directory services (Helix, for example).
3) Standardizing Nomenclature of Molecular Pathology Tests: We have formulated a draft recommendation for consensus "test names" for molecular pathology tests which will be available for general AMP member review soon. We are continuing discussions with other agencies and organizations with similar standardization goals (LOINC, Helix, Genline, HCFA, VA, etc.) in an attempt to get us all speaking the same language.
Finally, we should all offer profound thanks to the clinical practice committee members who have served us so well for the past year. Rob Wilson, Sid Finkelstein, and Adam Bagg will now have to look elsewhere for stimulating conference call banter. Thank you, gentlemen, for all your hard work and devotion.
As always, I and your Clinical Practice Committee representatives welcome your ideas on these and other practice-related issues. We look forward to hearing from you.
Contributed by: Rick Press MD, PhD
Chair, Clinical Practice Committee
Director of Molecular Pathology
Oregon Health Sciences University
pressr@ohsu.edu
Ed. Note: At the risk of some redundancy to Rick's piece on TFGT above, I thought it useful and newsworthy to include Wayne's perspective below, especially in light of Dr. Grody's membership on TFGT (besides who am I to turn down someone who was almost AMP President, and may yet be?)
TASK FORCE ON GENETIC TESTING
After 2 years of deliberations, the Final Report of the NIH-DOE TFGT has been released. Created under the auspices of the Ethical, Legal and Social Implications (ELSI) Working Group of the Human Genome Project, the Task Force was charged to survey the current state of clinical genetic testing practices in the United States and make recommendations for ensuring their safe and effective development and use. The scope included not only quality assurance of the analytic phase of testing, but also new test validation, appropriateness of test ordering and reporting, genetic counseling, public and professional education in genetics, confidentiality, discrimination, insurability, promotion of testing for rare disorders (orphan diseases), and ongoing monitoring of testing laboratories' performance.
Preliminary versions of the report had already been disseminated periodically and published in the Federal Register for comment, and a large number of individuals and organizations, including AMP, responded. Unlike some other initiatives in this area at the national level, all the key stakeholders were represented by voting members on the Task Force itself, including the pathology and genetics communities, the medical profession as a whole (AMA), academic and commercial genetic testing labs, the biotechnology industry, the health insurance industry, and consumers/patient advocates; the relevant government agencies (FDA, CDC, HCFA, NIH) were represented by nonvoting liaison members. In addition, all meetings of the Task Force occurred in Baltimore and were open to the public. There were opportunities provided for statements by visitors. In part because of this input, and much other vigorous work behind the scenes, a number of earlier draft proposals that were inconsistent with AMP's philosophy and interests do not appear in the Final Report.
No consensus statement growing out of such passionate debates among this many disparate interest groups could be expected to be entirely to everyone's liking in all its fine points, since many compromises had to be brokered along the way. But the end result, from AMP's perspective, is a generally palatable package of such universally accepted concepts as noncoercion, nondiscrimination, confidentiality, and high standards of test validation and performance, with the CAP/ACMG-administered quality assurance program designated as the one to be promoted for full national participation. Creation of a nongovernmental Advisory Committee on Genetic Testing, to be comprised of the same stakeholders listed above, is recommended to advise the HHS Secretary on continuing developments in the field and coordinate implementation of the Task Force's recommendations.
Although the Task Force's purview covered biochemical genetics, cytogenetics, newborn screening, and so on, the bulk of its attention, as reflected in the Final Report, was focused on predictive molecular tests in presently healthy people, since these were felt to be the most problematic from the psychosocial, economic, scientific and ethical perspectives; hence, the most stringent final recommendations apply to these. One issue of longstanding concern to AMP, informed consent for genetic research on stored tissues, is not dealt with in the Report, since the Task Force's charge covered only clinical testing on newly collected samples, not research. However, there are provisions specified for obtaining informed consent from subjects involved in validating new predictive genetic tests if specimen identifiers are retained, and for obtaining IRB approval of protocols for development of new predictive tests.
Bound copies of the 180-page Report have been distributed to interested parties, and a definitive edition is to be published in April or May by the Johns Hopkins Press. On the Web, see: http://www.nhgri.nih.gov/ELSI/TFGT-final
Contributed by: Wayne Grody, MD, PhD
UCLA Medical School
Medical Genetics/Molecular Pathology
grody@pathology.medsch.ucla.edu
LEGISLATIVE FOCUS
* Leahy Introduces Health Privacy Bill
On 11/4/97, Sen. Patrick Leahy (D-VT) introduced a health privacy bill, S 1368, the Medical Information Privacy & Security Act. The bill would provide individuals with access to health information of which they are the subject, ensure privacy with respect to personal medical records and health care-related information, impose criminal and civil penalties for unauthorized use of personal health information, and provide for the strong enforcement of these rights. The bill was referred to the Committee on Labor and Human Resources.
* Consumer Bill of Rights Presented to President Clinton
The President's Advisory Commission on Consumer Protection and Quality, which was co-chaired by Secretary Donna Shalala of the Health and Human Services Department, and Secretary Alexis Herman of the Labor Department, presented President Clinton with the Consumer Bill of Rights. The document addresses patients' rights to confidentiality of their health information. This right suggests that disclosure of individually identifiable medical information without written consent be permitted in only very limited circumstances. It was recommended that procedures be developed to prevent the inadvertent disclosure of information to individuals other than the patient.
TRAINING & EDUCATION COMM.
The '97 Committee's efforts were highlighted by i) a survey of Residency Training Programs for mol. diagnostics residency & fellowship training offerings, & ii) the drafting of general training objectives in molecular diagnostics for path residents. Each of these projects is being prepared as a possible AMP-sponsored publication. The '98 T&E Committee has defined 2 primary objectives; please let us know if you have other suggestions. The first is the initiation of an ongoing project to collect, catalog & distribute useful training & education resources from members & other sources to other members or institutions for molecular path education purposes. These might include full curricula or lecture handouts, reading lists, problem sets, case studies, 2 x 2 transparencies, autoradiograms, etc. The Committee would be happy to field any inquiries as to what may or may not be appropriate or useful. Please contact Committee members listed below.
The second objective, a follow up to the draft residency training guidelines, is the formal definition of similar draft guidelines for molecular pathology fellowship programs. This is a particularly opportune time to undertake this effort in parallel with efforts by the American Board of Pathology and the American Board of Medical Genetics and a joint Residency Review Committee of the Accreditation Council for Graduate Medical Education (ACGME) to set objectives for such fellowships and criteria for the proposed Molecular Genetic Pathology special qualification examination. A portion of a posting placed to CHAMP in mid-December for member feedback is attached here:
"The incoming T&E Committee would like to solicit your thoughts on background, knowledge, and training experiences required for an effective 1-year fellowship in molecular pathology that, in most cases, would provide exposure to a range of molecular testing in infectious diseases, oncology, genetics and perhaps other areas. This may involve coordination among individual specialized labs, and this type of integrated program would be distinct from more focused molecular exposure fellows in subspecialty areas (e.g. hematopathology, microbiology, etc.) might receive. Previous discussion of this concept revealed a range of opinion as to whether integrated training experiences in molecular pathology were necessary, and your thoughts on the need for such fellowships themselves is welcome. Background literature includes: 1) Kant JA. Training in Molecular Pathology, Hum Pathol. 26:1051-1054, 1995. 2) Letters to the Editor, Hum Pathol. 27:430-431, 1996, and 3) Willman CL. The Case for American Board of Pathology Certification in Molecular Pathology, Hum Pathol. 26:467-468, 1995.
We would like to encourage a range of discussion within subsections of AMP on this topic, so feel free to contribute your thoughts through your subsection representatives to the committee (below) or myself, or as part of an open discussion on this topic on CHAMP itself. The address for posting to CHAMP is champ@champ.pathology.pitt.edu"
'98 Training & Education Committee Members
HEMEPATH: Ethel Cesarman MD PhD/New York Hospital/Cornell Med.
Ctr./1300 York Ave/New York, NY 10021/F, 212-746-8302
ecesarm@mail.med.cornell.edu
GENETICS: Greg J. Tsongalis PhD/Hartford Hospital/80 Seymour St/Hartford, CT 06102/ F, 860-545-5206/gtsonga@Harthosp.org
INFECTIOUS DISEASES: J. Stephen Dumler, MD/Johns Hopkins Medical Institutions/600 N. Wolfe St., Meyer B1-193/Balt, MD 21287/F, 410-614-8087/sdumler@pathlan.path.jhu.edu/
SOLID TUMORS: Jack Lichy MD, PhD/Armed Forces Inst. Path/14th St. & Alaska Ave. NW/Wash, DC 20306-6000/F, 202-782-7623/lichy@email.afip.osd.mil
Jeffrey A. Kant MD PhD, 1998-99 T&E Chair
Dept. of Pathology, 7 Scaife/U of Pitt Med Center/3550 Terrace St/Pitt, PA 15213-2500/F, 412-383-9594/kantja@msx.upmc.edu
SECRETARY-TREASURER/ EDITOR'S COMMENTS
I'm now wearing two hats for AMP, that of Secretary-Treasurer and Newsletter Editor. I'd like to offer my praise to the subsection chairs for providing timely and concise summaries of the recent AMP meeting, located below. I'm going to be working on figuring out my job as Sect'y-Treasurer, but am happy to listen to your suggestions/thoughts regarding AMP and will take them to the AMP Council for consideration. Some topics that came up in SD included the authorship issue for AMP documents and manuscripts (I'm AMP Publications Committee chairperson), ideas about a social event at the annual meeting, and fundraising ideas for our young society. Please e-mail me if you want to discuss these or any other relevant issues.
We are working to keep the AMP homepage (www.pds.med.umich.edu/users/AMP/) fresh and updated regularly. Dan Wiedbrauk, down the hall, is making great progress on the Infectious Disease homepage, which will be linked to AMP's. Construction of the other subsection homepages is proceeding.
Need some online assistance with designing a PCR assay. Help is available from the Virtual Genome Center (VGC) at:
http://alces.med.umn.edu/VGC.html
The VGC is a place where molecular biologists can access tools & databases to aid their work. VGC has no director, staff, grant support, or corporate sponsors. It simply exists. The server, alces.med.umn.edu, is a Sparc 5/85 with 96Mb of memory and 15Gb of disk. It is running NCSA httpd 1.5.2 under Solaris 2.5.1 and has local copies of Genbank and Swissprot.
Daniel H. Farkas, PhD, HCLD, CC, CLSp(MB)
AMP Secretary-Treasurer/Newsletter Editor
William Beaumont Hospital
dfarkas@beaumont.edu
'97 PROGRAM COMM. REPORT
The third annual AMP meeting was held in San Diego, CA, November 12-15, 1997. The meeting was organized to present cutting edge scientific talks at plenary sessions, with practically-oriented workshops related to clinical molecular diagnostic testing. While there were a few glitches, most participants seemed to feel that the San Diego meeting was very successful and useful for them. Chairs for the different AMP Subdivisions, including solid tumors, genetics, hematopathology, and infectious disease have provided detailed summaries of their plenary sessions and workshops at the '97 meeting, as well as information about Subdivision business meetings and plans for 1998 (see specific Subdivision listings below). Since the Subdivision Chairs have done such a good job of summarizing the '97 meeting, I will simply make a few general remarks regarding the '97 and future meetings.
Each year, the Program Committee incorporates lessons learned from previous years to improve the scientific and organizational features of our meeting. Although it is not possible to incorporate all members' suggestions about the annual meeting, the Program Committee makes a very serious attempt to select speakers and topics and to organize the meeting in such a way that it remains useful and informative to all of our members. Following the Baltimore meeting in 1996, many members stressed the importance of maintaining and fostering the clinical orientation of the annual AMP meeting. The AMP meeting is a unique forum to meet other people working in the field, and to discuss many of the nitty-gritty, practical details and problems associated with clinical molecular diagnostics. This clinically-based orientation will be maintained, and even enhanced, in future meetings. Dr. Carleton Garrett, '98 Program Chair, summarizes the status of planning for the 1998 meeting and presents results of his membership survey below.
The past couple of years have been very much a learning process for all involved in planning the annual meetings, and also for those involved in other AMP activities. It is clear that there needs to be, and hopefully will be, considerably more interaction in the future within AMP subsections between meetings, to develop some of the types of clinical interactions members want to see (see Subdivision summaries). Input and participation from all AMP members, including those who were not able to attend the '97 meeting is always welcomed. Subdivision Chairs and Clinical Practice Committee representatives are already working on meeting planning and specific projects, so now is the time for interested member to volunteer to help! Ideas about important administrative and ethical issues, social activities, AMP abstracts, technologist training and interactions, as well as specific scientific topics related to molecular diagnostics are being solicited at this time.
Finally, I would like to thank the '97 Program Committee members for their thoughtful, timely and generally excellent support during the year, Maricel Herrera and Fran Pitlick in the AMP office for their constant assistance with the many practical details of the meeting, and Jeff Kant, for his outstanding efforts in generating exhibitor support for the '97 annual meeting. Jeff also organized the excellent corporate-sponsored workshops held the day before the regular meeting started, which were felt to be a valuable addition by the majority of AMP members, and Jeff arranged for corporate funding for a keynote speaker for the annual meeting in 1998 and subsequent years. Thanks to the efforts of all these people, it was a rewarding and (mostly) enjoyable experience serving as 1997 AMP Program Chair.
Rita M. Braziel, MD
1997 Program Chair
braziel@ohsu.edu
1998 ANNUAL MEETING
Crystal City, Virginia '98
PROGRAM COMMITTEE UPDATE The AMP Program Committee is developing the schedule for the 1998 Annual Meeting, November 6-8 (2 1/2 days, Friday-Sunday) at the Hyatt Regency Hotel in Crystal City, Virginia. AMP Past-President, Peggy Gulley is developing plans to hold pre-meeting workshops and is working on recruiting exhibitors for the meeting. Having learned from our experience in San Diego, the AMP central office has reserved a group of rooms for the evening of Wednesday, November 4, to accommodate those who wish to attend premeeting activities beginning on Thursday. More information regarding phone numbers for hotel registration, room rates and exact location will be provided in the next newsletter and along with other meeting information that includes an abstract form and meeting registration form.
To assist in planning the '98 meeting, a number of ad hoc members have been added to the Program Committee. These include the two past Program Chairpersons (Tony Killeen & Rita Braziel) and the past Section Chairs (Ron McGlennen, Sandra Wolman, Diane Farhi & Rick Nolte). Including them on the '98 Program Committee will hopefully enable the Committee to gain from their experiences and continue to better meet the needs of the AMP membership. The '98 Program Committee will also include Peggy Gulley who is in charge of recruiting exhibitors and overseeing exhibitor workshops (ad hoc Exhibitor Issues Work Group). Cathie Leiendecker-Foster and Kent Williams have also agreed to serve as ad hoc members on the '98 Program Committee. They will focus on determining what specific needs may exist for those who perform most of the actual testing and day-to-day laboratory operation that could be addressed through educational and training sessions at the Annual Meeting (ad hoc Issues from the Workbench Planning Group). Cathie and Kent will build on the enthusiasm for these issues started with the Beaumont Hospital-supported medical technologist workshop presented by Ann Drevon and Rick DiCarlo in San Diego.
The Program Committee is working to establish the '98 Meeting schedule, identify plenary session speakers and topics, and develop agendas for the Annual Meeting workshops. Through the efforts of Tony Killeen we have established a common E-mail address and scheduled monthly conference calls to facilitate communication. Many of you volunteered to work on the 1998 meeting (see "Results of AMP Questionnaire" below) and the Committee will try to keep you informed of opportunities as they develop. All AMP members who have not filled out a questionnaire and would like the opportunity should still be able to make their views known as the questionnaire was also distributed through CHAMP. Please contact the Program Chair if you have any questions regarding this matter.
The Committee has begun the process of identifying potential sites for the '99 meeting, led by Karl Voelkerding. This year the Committee also hopes to begin extended planning for meetings occurring beyond 1998-1999. Program Committee members welcome your thoughts, opinions and comments about the Annual Meeting. Please send these, by E-mail if possible, to the Section Chair and Chair-Elect or Leaders of the ad hoc planning groups who deal with the specific topic(s) of your interest (you may copy your message to the Program Chair and Chair-Elect if you wish). The Annual Meeting is your meeting.
Section Chairs (listed first)/Chairs-Elect (second) & ad hoc Planning Group Leaders:
Hemepath: Tim O'Leary (tjo@afip.mil)
Jeff Medeiros (jmedeiros@smtplink.coh.org)
Genetics: Bob Jenkins (rjenkins@mayo.edu)
Mark Lovell (mal3u@virginia.edu)
ID:RobertaMadej:roberta_madej@cc.chiron.com
Karen Kaul (k-kaul@nwu.edu)
Solid Tumors: Tom Frank (tfrank@myriad.com)
Marc Ladanyi (ladanyim@mskcc.org)
ad hoc
Issues From the Workbench:
Cathie Leiendecker-Foster
(foste011@maroon.tc.umn.edu)
Kent Williams (kent.williams@stjude.org)
Exhibitor Issues: Peggy Gulley (gulleym@uthscsa.edu)
Program Chair: Carleton Garrett (ctgarrett@gems.vcu.edu)
Program Chair-Elect: Karl Voelkerding
(k.voelkerding@uwmsg.hosp.wisc.edu).
Submitted by: Carleton T. Garrett, MD, PhD, Program Chair & Karl V. Voelkerding, MD, Program Chair-Elect
RESULTS OF '97 ANNUAL MEETING QUESTIONNAIRE
The first results from a questionnaire concerning the AMP annual meeting obtained from AMP members and others who attended the Annual Meeting in San Diego (11/97) are summarized here. If you did not attend the meeting, or if you did attend but did not have a chance to fill out the questionnaire, you can still make your views known. The questionnaire was redistributed to the AMP membership over CHAMP at the end of December. Please complete and return it by E-mail, fax or regular mail as indicated at the top of the questionnaire.
One hundred and thirty-two out of approximately 300 attendees responded. The questionnaire inquired as to where the meeting should be held; when during the year should it occur; should AMP consider holding its Annual Meeting jointly with other societies; and, how should the meeting be structured. Opportunity was available to make comments and many were received. The questionnaire also had a space to indicate willingness to volunteer to work on the '98 meeting and a third (44 out of 132) responded affirmatively. Among the highlights to the first question regarding location, a clear majority (61.5%) indicated a desire to rotate the meeting sight around the country and to include regions, e.g., Midwest, Southeast, etc., as well as both coasts. Another 20% favored both the east and west coasts as possible meeting sights. Ninety-eight % indicated that convenience of air transportation to and from the meeting location was either very important (65%) or somewhat important (33%). Almost half (49.2%) of those responding felt that a round trip air fare of $700 or greater would prohibit them from attending the Annual Meeting and the majority (>80%) saw hotel room rates of $130/night or greater and registration fees of $300 or greater as either an important consideration or prohibitive with regard to their attending the Annual Meeting.
The majority of responses (57%) favored continuing holding the meeting either in November or during the months of September through December. Twenty % of those responding had no preference regarding meeting time. December and August received respectively the second lowest and lowest number of votes. These results may, of course, be biased by the fact that those who voted were those able to attend a meeting in November. It will be interesting to see how those who did not attend the meeting feel regarding this matter.
Regarding the issue of whether AMP should hold its Annual Meeting with other societies, results were mixed. Thirty-seven % were not in favor of the idea. Forty-seven % either strongly (14%) or somewhat (33%) favored this and 16 % felt that the issue was not important to them. Of the 63 % of those who either favored the idea or who were not disinterested in it, 81% would hold the joint meetings either every other year or less than every other year and 89% would favor having the meetings overlap or follow each other but not be held conjointly.
Responses were very favorable regarding the structure of the meeting with 100% rating the plenary sessions as either excellent (56.6%) or good (43.4%) and 41% indicating that the information was not only educational but was directly useful in modifying either protocols or testing. Workshops likewise received high marks (96% either excellent or good) with a majority (59.8%) indicating that the information was both useful from an educational perspective and in modifying either protocols or testing. 97% of responses rated the Exhibits as either excellent or good and 54% found the information and interaction with exhibitors to be both informative and useful with regard to modifying a protocol or test in their laboratory.
Many responses contained comments and these have all been transcribed and have been forwarded to the AMP Council members. Those dealing with the program (the vast majority) have likewise been sent to members of the AMP Program Committee. Many constructive suggestions were made regarding possible improvements to the program. Needless to say, not everyone felt that everything was perfect in AMP. Nevertheless, based on the interest expressed by a third of responders to become involved in the '98 program as well as the tone present in many of the comments, one senses a willingness by many of the members to assist in building this young organization. Clearly, finding a way to productively utilize the many talents of AMP members provides this organization with one of its greatest opportunities and challenges.
Submitted by: Carleton T. Garrett, MD, PhD
Program Chairperson 1998
HEME-PATH SUBSECTION
Meeting Summary-Plenary Session:
The Hematopathology Subsection Plenary Session at the San Diego meeting was absolutely spectacular, due to the organizing efforts of Rita Braziel and Cheryl Willman. Douglas Ross from Stanford spoke about the technological basis, applications, and information systems aspects of a cDNA microarray system for assessing gene expression patterns. The talk illustrated the technical feasibility of simultaneously assessing expression of thousands of genes, potentially providing a "genetic fingerprint" related to the clinical behavior and therapeutic response of cancer cells. This may have been a glimpse into our future! Thomas Reid of NIH followed this up with a talk on spectral karyotypic of leukemias and lymphomas. Spectral karyotyping is a potential partial replacement for G-banding, in which metaphase spreads are hybridized with color-coded, chromosome-specific probes. With the right equipment, these chromosomes can be rapidly distinguished on the basis of these chromatic characteristics, and even complex translocations identified. Many cytogenetic changes which cannot be accurately described on the basis of G-banding alone can be characterized in this way, though others, such as simple inversions, won't be detected. Nevertheless, this is a powerful technique, which may become even more important in solid tumor cytogenetics than in hematopathology.
Business Meeting
The Hematopathology Subsection Business Meeting featured a report by Clinical Practice Committee (CPC) member Adam Bagg on CPC activities, including work on guidelines for PCR-based heavy chain rearrangement assays. Other discussions included concerns about the nature of CAP surveys materials, which are widely felt to be both "non-representative" and of less than optimal quality when received by the laboratories. While the membership recognized the difficulties associated with preparing optimal survey material, most members believed that the current program is inadequate to meet the needs of the practicing molecular hematopathologist. Informal sample-exchange networks were considered as a possible supplement to the CAP program.
Lots of folks, including Jeff Kant, Peggy Gulley and Cheryl Willman, contributed to discussions on Training and Education Issues. The status of American Board of Pathology recognition (deferred for another year) and the need to "lobby the Board" with well thought out arguments supporting the utility of subspecialty certification were particularly hot topics. One strongly endorsed suggestion was that we should approach the Residency Review Committee as individual programs for recognition of our molecular pathology fellowship programs. The need to define a "core" of molecular pathology knowledge and skill was also recognized.
A brief discussion of Web Page Contents and workshop structure rounded out the meeting.
Workshops
Prior to the Workshops, a flurry of activity driven primarily by Rita Braziel and Adam Bagg, led to the acquisition of a number of protocols for various hematopathology assays, including heavy chain and TCR gene rearrangement, and t(14; 18), t(11; 14) and t(15; 17). A number of folks, including Adam Bagg (heavy chain), Rita Braziel and Teresa Launder (TCR), Dan Arber (t[14;18]), Jeff Taubenberger (t[11;14]), and Richard Larson (t[15; 17]) agreed to review protocols which had been solicited over CHAMP, post "sample" protocols on the Hematopathology Subsection Web Site (http://bubba.afip.mil/~tjo/hemehome.html), & coordinate discussion at the workshops. The membership divided themselves into these working groups, plus a sixth, devoted to clinical testing algorithms organized and moderated by Suzanne Kamel-Reid, and discussed pros and cons of the "sample protocols" which had been posted and circulated before the meeting, and the perceived advantages and disadvantages of the protocols used in their individual laboratories. During the second workshop, the moderators presented written and verbal synopses of the workshop discussions to the membership at large, giving everyone a chance to comment. All the participants in the laboratory protocol workshops agreed that "round robin" testing of laboratory protocols is a necessary first step towards a goal of reducing the number of protocol variations used in different laboratories. By the end of the meeting, participants representing 29 different institutions had signed up to participate in these "round robin" testing sessions.
Since the meeting, I have compiled a database of the participants, and will be working with Rita Braziel and the moderators to get the "round robin" organized by sometime in January. The membership unanimously agreed that the "informal workshop" used for these session should be retained in preference to formal presentations.
Election Results
'98 Hematopathology Subsection officers are:
(See membership directory for contact info)
TIM O'LEARY, Hematopathology Chair
JEFF MADEIROS, Hemepath Chair-elect
RITA BRAZIEL, Clinical Practice Committee
SUZANNE KAMEL-REID, Nomin. Committee
RICHARD HARVEY, Nominating Committee
ETHEL CESARMAN, T&E Committee
A Personal Note
I would like to personally thank Rita Braziel and Adam Bagg for the fantastic job they did getting the workshops organized this year, and Rita, Adam, Dan Arber, Richard Larson, Jeff Taubenberger, Teresa Launder Susanne Kamel-Reid for getting them "into the air" and keeping them on course during the San Diego meeting. All of them did this work on short notice and no billing in the meeting program. Their dedication to making this program come off was inspiring!
Contributed by: Tim J. O'Leary, MD, PhD
Armed Forces Institute of Pathology
tjo@afip.mil
INFECTIOUS DIS. SUBSECTION
Annual Meeting Report, Plenary Session:
David Relman, MD presented many of the traditional and current methods of pathogen discovery, discussing the shortcomings of historical methods and advantages of molecular methods when understood and used properly. Consensus PCR, Representational Difference Analysis and cDNA expression library screens were discussed and applications examples were given. The CDC's "unexplained death project" and the approach to examine the specimens from relatively healthy individuals who died prematurely was outlined. Speculation of the future included the use of identification chips and whole cell-based hybrid biosensors.
Focusing the topic of molecular identification to sequence analysis, Jim Musser, MD, PhD, presented operational, scientific and clinical data using sequencing in mycobacteriology. Besides species identification, drug resistance mutations can be determined. Beyond detection and identification, the data from sequence analysis can provide epidemiological information for outbreaks, patterns of infection, and analyses of levels of resistance.
Workshops:
I. Infectious Diseases Proficiency Testing Programs - Progress and Lessons Learned
David Persing, MD, PhD and Rick Nolte, PhD presented information on the CAP and the EuroHep proficiency programs, respectively. Both programs provide panels which are being used to assess proficiency of infectious disease molecular diagnostic assays. The data from the most recent surveys were reviewed and each speaker analyzed the issues surrounding the data and the makeup of the panel. Their presentations provided a forum for discussion of future work needed by the panel manufacturers, the test manufacturers and lab directors.
Dan Wiedbrauk , PhD, presented data from an HSV survey that was made, distributed and analyzed by his laboratory at William Beaumont Hospital. Lessons learned from this panel which provided a good model of proficiency analysis were: a) analyses and "scoring" were based on what the lab reported as their analytical range, b) up to 30% of the labs changed something about their testing as a result of the analyses and feedback; and c) built into the panel were specimens that were inhibitory, but labs were graded on their recognition and action on those specimens rather than just the result.
II. HIV-Beyond Viral Load Testing
Scott Eastman, PhD spoke about his work in HIV resistance. He gave an update on the state of the art in testing and the complexity of interpretation. There are few straightforward answers but information from research is assisting in drug therapy decisions for primary treatment and treatment after drug failure.
Debra Leonard, MD, PhD, reported on her lab's implementation of the CCR5 receptor assay, an example of where genetics and immunology meet infectious diseases. Increased susceptibility or resistance to a disease may not depend solely on testing for an organism. Disease progression and the association with the homozygous and heterozygous states of the 32 bp deletion in several populations were reviewed. Possible clinical use of this assay's results were discussed.
Where to test after HIV has "cleared" from the plasma was the topic of the presentation given by Angela Caliendo, MD, PhD. The dynamics and mechanics of HIV infection in activated vs. memory CD4+ cells as well as the testing of other immune-cell and sanctuary sites were considered. Some techniques included in situ hybridization, PCR and in vitro stimulation assays. Immune function testing of residual and renewed cells was also discussed.
Infectious Diseases Business Meeting Performing his last "official" function as ID Section Chair, Rick Nolte conducted the business meeting luncheon. He reported on the clinical practice guidelines that had been proposed (HIV viral load testing) asking for volunteers and opening the floor to discussion of other practice guidelines. Several suggestions were made and are presented in relative order of "enthusiastic response" from the group: HCV, Septic meningitis, Pertussis, Amniotic fluid testing-intrauterine infections, Parvovirus. Serving a second year on the Clinical Practice Committee, Rick will proceed with the HIV viral load testing guidelines, engaging the five members who volunteered their help. Rick also asked for suggestions for the 1998 AMP meeting plenary and workshop sections. The suggestions were as follows (no specific order):
Plenary Session Suggested Topics:
HIV Kinetics/HIV Drug Resistance: assays/interpretation updates
Antibiotic Resistance/Epidemiology/Molecular Epidemiological tools
Aseptic Meningitis/Helicobacter/HPV
Infectious Diseases and Ca: Helicobacter and HPV... and others?
Molecular work in fungi and parasites
Workshops (2) Suggestions:
Make them more interactive
Bring in home-brew protocols: compare & contrast
Troubleshooting
Extraction protocols/Validation protocols
Cutting-edge methods applications
This business meeting was held before the second workshop (detailed above) which received a good verbal response. Based on discussions with meeting participants, Karen Kaul (our chair-elect), and the information from the business meetings, we suggest one interactive workshop discussing troubleshooting and validation, and one informal lecture/discussion workshop of "cutting-edge" topics similar to the one presented this year.
For the interactive workshop please keep your eyes open for problem scenarios and for validation protocols which you would like to present or discuss. The success of this session will depend on receiving submissions! Please send them to ROBERTA MADEJ (who contributed this piece), Chiron Diagnostics, 4560 Horton Street, Emeryville, CA, 94608. Ph: 510-923-4005. F: 510-655-7733. e-mail: roberta_madej@cc.chiron.com
SOLID TUMOR SUBSECTION
Annual Meeting SUMMARY
Four speakers were featured in the solid tumor plenary sessions, which had a theme of DNA methylation. The keynote speaker was Peter Jones, MD, who spoke on DNA methylation changes and cancer. Dr. Jones explained the evolutionary pressure to create CpG "islands" throughout the genome, often associated with genes. A laboratory method, abbreviated Ms-SNuPE, can be used to identify the methylation status of CpG islands. In the subsequent plenary sessions on this topic, Gerd Pfeifer, PhD, Joseph Costello PhD and Jean-Pierre Issa PhD described the chemistry of DNA methylation, how methylation of promoters can be used to identify genes that have been inactivated, and causes of aberrant methylation of CpG islands related to deficiencies in DNA mismatch repair.
The first Solid Tumor workshop consisted of three brief presentations on laser-capture microdissection and its use in analyzing mutations associated with MEN1, an update on BRCA1 and BRCA2 in hereditary breast and ovarian cancer, and the effect of formalin-fixation on molecular analysis of archival tissues. The second workshop consisted of platform presentations of selected abstracts.
In addition, the Solid Tumor group had two working lunches. The first was for a discussion focusing on the genetics of breast cancer, as well as a smaller group discussion on brain cancer. The second was a business lunch in which Tom Frank and Marc Ladanyi (fax, 212-794-5830) were introduced as Chair and Chair-Elect, respectively, of the Solid Tumor Subdivision, and Tom Giordano assumed responsibility for the Solid Tumor homepage. Potential topics for next year's workshops were discussed and an interest was expressed in making them more interactive and less didactic. Potential topics included strategies for sharing samples among laboratories, establishing priorities for the establishment of testing or analytic guidelines, and identification of analyses that have become standard of care (or what they need to be). Ideas will be circulated on CHAMP, and additional ideas are always welcome to either Tom or Marc.
Tom Frank, MD
Myriad Genetics Laboratories
Fax, 801-584-3515/e-mail: tfrank@myriad.com
GENETICS SUBSECTION
Annual Meeting SUMMARY, Plenary:
The Genetics Plenary Session was held on Thursday, November 13. The speakers were Dr. Karen Gripp of the Children's Hospital of Philadelphia and Dr. Richard Press of the Oregon Health Sciences University.
Molecular Genetics of the Craniosynostoses: Dr. Gripp discussed the genetic basis of the most common craniosynostosis syndromes. Several of these diseases are associated with mutations in the fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3). For example, mutations in FGFR1 and FGFR2 are observed in Pfeiffer, Apert, Crouzon, and Jackson-Weiss syndromes. A related craniosynostosis syndrome, Saethre-Chotzen syndrome, is associated with mutations in the TWIST gene, a newly discovered basic helix-loop helix transcription factor.
Most mutations in the FGFR3 gene are associated with other genetic skeletal disorders, including hypochondroplasia & achondroplasia. However, Dr. Gripp and her colleagues have recently discovered a new FGFR3 mutation (Pro250Arg), associated with a new craniosynostosis syndrome. The most common finding in patients with this syndrome is coronal suture synostosis. Although this finding is not specific for this new syndrome, patients with coronal synostosis should be screened for this mutation and other FGFR1/FGFR2 mutations. AMP members interested in the craniosynostoses are referred to the following review articles:
Bellus GA, et al. (1996). Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14:174-176.
Muenke M, et al. (1997). A unique point mutation in the fibroblast growth receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Amer J Hum Genet 60:555-564.
Cohen MM Jr (1995). Craniosynostoses: Phenotypic/molecular correlations. Amer J Med Genet 56:334-339.
Muenke M, et al. (1995). Fibroblast growth factor mutations in human skeletal disorders. Trends Genet 11:308-313.
Wilkie A (1997). Craniosynostosis: genes and mechanisms. Hum Molec Genet 6:1647-1656.
Hemochromatosis: Clinical & Lab Aspects
Dr. Press discussed several clinical and laboratory aspects of hereditary hemochromatosis (HH). This is an autosomal recessive iron overload syndrome caused by excessive GI iron absorption. Iron accumulates in several organs and can cause organ failure. In its early stages, HH can be simply treated by phlebotomy. HH is one of the most common genetic diseases in European Caucasians. Screening iron studies have demonstrated a homozygote prevalence of 1/200 - 1/500 in this group of people. The HH gene has been recently cloned, and because it shares homology with MHC class I genes (and is located in the MHC gene cluster on 6p), it was initially given the nomenclature designation HLA-H. Dr. Press indicated that the designation may change to Hfe. A specific mutation/polymorphism in HLA-H, the Cys282Tyr alteration, seems to be associated with the bulk of HH. Individuals homozygous for this alteration are highly penetrant for laboratory evidence of iron overload. Dr. Press indicated that this penetrance may be as high as 100%. It is still unknown how many individuals with laboratory evidence of iron overload will progress to clinical symptoms. For this reason, and others, population screening for the C282Y alteration is not recommended at this time. The C282Y test should be used to confirm the HH diagnosis in patients with elevated iron parameters, clinical symptoms of iron overload, or a family history of HH. Dr. Press also discussed the significance of the HLA-H His63Asp alteration. C282Y/H63D compound heterozygotes are overrepresented in HH patients, compared to controls. For this reason, in Oregon, H63D genotyping is performed on those specimens that are C282Y heterozygotes. This will miss the H63D homozygotes. However, the penetrance of the H63D alteration is thought to be very low (~ <0.2%). Thus, most H63D homozygotes are not likely to have iron overload. AMP members interested in HH are referred to the following review articles:
Adams PC, et al. (1997). The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepathol 25:162-166.
Robson KJH, et al. (1997). Haemochromatosis: a gene at last? J Med Genet 34:148-151.
[Ed. note: See also the review article by AMP member Karl Voelkerding in the March or April (1998) issue of Clinical Laboratory News.]
Genetics Workshops: These were held November 14.
Genetics Workshop I: Practicum in Sequence Based Mutational Analysis for Clinical Testing: Ms. Margaret Suess from the University of Minnesota, Dr. Bratin Saha from Emory University, and Dr. Michael Wenz from Perkin Elmer/Applied Biosystems conducted a workshop on sequence-based mutational analysis for clinical testing. Ms. Suess described in detail her experience with developing a clinical DNA sequencing test for the p53 gene. She discussed several technical issues, including primer design, selection of polymerases, and ways to reduce artifact in semi-automatic fluorescent-dye based sequencing instruments. AMP members developing similar tests are encouraged to contact Ms. Suess to discuss how she dealt with these issues. Dr. Saha described in detail his experience with developing a clinical SSCP test for X-linked agammaglobulinemia. He described the biophysical basis for SSCP and heteroduplex analysis and ways to troubleshoot these procedures. He strongly encouraged labs developing SSCP tests to try several different buffer conditions to optimize detection of novel migrating DNA fragments. His lab always starts with a glycerol-based buffer/gel system, because in their experience, these conditions are often successful in differentiating mutant and normal fragments. Dr. Wenz described the use of the ABI Prizm 310 Capillary Electrophoresis System for the detection of genetic alterations. As many AMP members know, this instrument can be used for microsatellite genotyping, SSCP analysis, and DNA sequencing. Dr. Wenz discussed how to develop tests for each of these applications on the 310 instrument.
Genetics Workshop II: A Minisymposium in Cardiovascular Genetics: Dr. Nigil Key of the University of Minnesota led a minisymposium on genetic testing issues in cardiovascular genetics. He discussed several genetic alterations associated with the development of venous thrombosis and/or atherosclerosis, including antithrombin III C deficiency, protein C deficiency, protein S deficiency, Factor VLeiden, prothrombin alterations, and homocystinuria. Cardiovascular disease scientists now believe that venous thrombosis and/or atherosclerosis are diseases in which alterations in several predisposing genes or pathways listed above interact with the environment, e.g. oral contraceptive use, age, immobilization, to increase the thrombotic risk. Dr. Key discussed indications for genetic tests for Factor VLeiden and homocystinuria. Given the prevalence of the alterations in the population and the incidence of venous thrombosis and/or atherosclerosis, he suggested that the tests be limited to individuals with recurrent cardiovascular problems.
Other Scientific Activities at the Meeting: Several posters were presented at the meeting. AMP members are referred to the appropriate issue of Amer J Pathol to read these abstracts. One abstract was selected for plenary presentation. Dr. Paal Anderson from Copenhagen presented a study evaluating use of cleavase fragment length polymorphism (CFLP) analysis to detect mutations causing hypertrophic cardiomyopathy and long QT syndrome. He reported that CFLP analysis is a relatively easy procedure to develop. However, like other non-sequencing methods, CFLP analysis misses a significant proportion of mutations.
Genetics Subsection Business Meeting: At noon on November 14, the Genetics Subsection held a business meeting chaired by Dr. Ron McGlennen who introduced the 1998 chair and 1998 chair-elect, Drs. E. Robert Jenkins and Mark Lovell, respectively. The subsection representative to the Clinical Practice Committee, Dr. Robert Wilson then briefly described his efforts at developing a clinical practice guideline for Factor VLeiden testing. The document is nearing completion and will be shared with the subsection members in the near future. The '98 representative to the Clinical Practice Committee, Dr. Andrea Ferreira-Gonzalez, will coordinate completion of the document. Dr. Walter Noll then briefly described the activities of the AMP members on the CAP Molecular Pathology and Biochemical and Molecular Genetics Committees. Genetics subsection members with concerns about the CAP checklist and proficiency tests should contact Dr. Noll (walter.noll@dartmouth.edu).
The business meeting ended with a discussion of '98 meeting program ideas for plenary lecture speakers and workshop topics. Suggestions should be forwarded to Dr. Jenkins (rjenkins@mayo.edu) as soon as possible because the program will be determined during January and February.
Submitted by Robert Jenkins, MD, PhD
Department of Laboratory Medicine and Pathology
Mayo Clinic
e-mail: rjenkins@mayo.edu
UPDATE FOR CHAMP USERS
CHAMP (short for CHat-AMP) is the AMP's mail list for members in good standing, (i.e., current in dues!). It is a great vehicle for communications to members from Council, committees and the central office as well as for members to post general questions, announcements, jobs, need for jobs, and have discussions about molecular diagnostics topics.
* When you renew your membership make sure your e-mail address is correct. I have deleted addresses from CHAMP because postings repeatedly come back with 'fatal errors' that prevent delivery. If you sent in an e-mail address and never get messages from CHAMP, drop the office or me a note to make sure your address is free of errors.
* When your response to a CHAMP posting is strictly for an individual and not the membership, reply directly to the poster whose e-mail address should be on the 'From' line and/or in the message. Please DO NOT click the 'reply' icon or menu of your e-mail program. If you do, the message comes back to CHAMP, subject to delays attendant to my universe or potentially gratuitous deletion (which I have not succumbed to yet), hypothetically termed by Adam Bagg as 'The Wrath of Kant.'
HOW TO SUBSCRIBE TO CHAMP: Send an e-mail message to:
listserver@champ.pathology.pitt.edu
with a blank message title. The body of the message should say: subscribe champ
AMP Home Page: http://www.pds.med.umich.edu/users/amp
CPT1 CODES for MOLECULAR DIAGNOSTICS
NEW in 1998
Codes for infectious agents detected by molecular techniques are now organism-specific. If there is no specific code, general methodology codes should be used.
General Methodology Codes
Code
1998 Description Organism Specific Codes
Quoted from the Medicare B Special Bulletin, Dec, '97, p 22, Indiana edition; but there is reason to believe it is widely applicable:
NOTE!
"[The DPT/APT codes in the above table and 87797-8] are priced at the sum of 83890, '92, '94, '98 and 83912."
Submitted by: Jeff Kant kantja@msx.upmc.edu
Please contact Dr. Kant with any questions.
Code
Description
83890
Molecular diagnostics; molecular isolation or extraction
83892
Enzymatic digestion
83894
Separation (e.g., dot blot, electrophoresis)
83896
Nucleic acid probe, each
83898
Molecular diagnostics; amplification, e.g., PCR, each
83902
Molecular diagnostics; reverse transcription
83912
Interpretation and report
87178
Microbial identification, nucleic acid probes, each probe used
Deleted for 1998
87178
microbial identification, nucleic acid probes, each probe used
87179
Microbial identification, with amplification, e.g., PCR
88365
tissue in situ hybridization, interpretation and report
1 Current Procedural Terminology: the American Medical Association's systematic listing and coding of procedures and services performed by physicians; use simplifies reporting and accurate identification of services.
87797
Infectious agent detection by nucleic acid (DNA or RNA); not otherwise specified, direct probe technique
87798
Not otherwise specified, amplified probe technique
87799
Not otherwise specified, quantification
Microorganism Direct Probe Amplified Probe Quant.
Bartonella henselae/quintana 87470 87471 87472
Borelia burgdorferi 87475 87476 87477
Candida spp. 87480 87481 87482
Chlamydia pneum. 87485 87486 87487
C. trachomatis 87490 87491 87492
Cytomegalovirus 87495 87496 87497
Gardnerlla vag. 87510 87511 87512
Hepatitis B 87515 87516 87517
Hepatitis C 87520 87521 87522
Hepatitis G 87525 87526 87527
Herpes simplex 87528 87529 87530
Herpes virus-6 87531 87532 87533
HIV-1 87534 87535 87536
HIV-2 87537 87538 87539
Legionalla pneumoph. 87540 87541 87542
Mycobacteria spp. 87550 87551 87552
M. tuberculosis 87555 87556 87557
M. avium-intracellulare 87560 87561 87562
Mycoplasma pneum. 87580 87581 87582
Neisseria gonorrhea 87590 87591 87592
Paplliomavirus, human 87620 87621 87622
Streptococcus, grp. A 87650 87651 87652
"Implementation of 1998 Clinical Laboratory Fee Schedule and Mapping for 1998 Laboratory Coding Changes: In accordance with '4553 of the Balanced Budget Act of 1997 (which amended '1883(h)(4)(B) of the Social Security Act), there will be no annual update (economic index) in the local fee amounts for 1998 and the national limitation amount for 1998 is reduced to 74% of the median.."