Genomics Forum
Policy Committee
May 9, 2011
4:00 – 5:00 P.M. EST
Minutes
Present on Call:
Nora Isack, University of Michigan
Steve Modell, University of Michigan
Kristi Zonno, Myriad Genetic Laboratories
Nicole Exe, University of Michigan
Dan Vorhaus, Robinson Bradshaw & Hinson (Genomics Law Report)
Apryl Brown, Detroit
For any corrections please contact Nora Isack at noraisack@gmail.com
Agenda:
-
Intro. (Kristi)
Review of policy statement topic areas plus assignments (Stephen)
Call attendees describe areas they've been researching and outcomes so far
Minutes:
1. Issues Brief:
Being work on.
2. Policy Statement - Specific Areas:
A. Predictive and diagnostic genetic testing in oncology
Stephen Modell (mod@umich.edu); Sara Kowalczyk (Sara.Kowalczyk@bmc.org)
More on Medline on predictive than diagnostic testing
A lot of information related to colorectal cancer and breast cancer
B. Direct-to-Consumer (DTC) genetic testing and marketing
Heather Honore (heather.honore@va.gov); Jon Entine (jon@jonentine.com); Dan
Vorhaus (DVorhaus@rbh.com)
Some writing done already (Steve)
Dan can provide information from http://www.genomicslawreport.com
Recent American Society of Clinical Oncology (ASCO) panel on DTC
C. Genetic Variation Research
Dean Hosgood (hosgoodd@mail.nih.gov) ; Ashley Braun (acbraun@med.umich.edu)
Dean and Ashley are compiling information
Heather sent some bladder cancer GWAS studies
D. Gene expression profiling (GEP)/Oncogenomic Tests
Stephen Modell (mod@umich.edu); (Dean Hosgood (hosgoodd@mail.nih.gov) and
Heather Honore (heather.honore@va.gov) lending specialized assistance in needed
areas)
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Breast Cancer
Steve:
Prognostic profiling assays – Oncotype Dx and MammaPrint are in phase III clinical
trials
Mammaprint (70 gene signature) has been validated as a prognostic indicator in an
independent dataset
Its utility in therapeutic decision-making being evaluated in an ongoing trial
Oncotype Dx (21 gene assay) has been investigated in 2 separate trials for its prognostic
ability – contradictory results
Ongoing trial for its therapeutic utility
The above from a nice review article by Morris and Carey 2007
EGAPP produced a Recommendation Statement in 2009
EGAPP found adequate evidence for the assays regarding association with future
recurrence and metastases, but inadequate evidence for risk stratification
-
Value in Medsearches for individual review articles and search for technology
assessments (e.g., EGAPP)
Looking for criteria that will be of value to providers
Looking for disagreements and research gaps that introduce the opportunity to
include recommendations in our policy statement
Public health role is in digging out the distinctions in what an assay is good for and
what it isn’t, as well as educating providers in the relative usefulness of the assay
Lynch syndrome – colorectal CA
Steve:
EGAPP looked at several Lynch syndrome strategies – both for preliminary screening
and genetic diagnostic testing
EGAPP found adequate evidence for clinical validity of 3 preliminary tests and 4
diagnostic strategies. Also found sufficient evidence to offer testing to relatives, but
insuff. evidence to recommend one strategy over another.
- once again, this news useful to providers
- this assessment role of public health very important
- we can emphasize public health’s role in advising strategies for the whole family
- another May 2010 article in J Natl Compr Ca Network looks at ethical issues
(warning relatives of risk, psychosocial burdens of treatment, etc.) and barriers
(clinical expertise gaps, financial limitations) to popn. screening for Lynch syndrome
- ELSI-type articles can be useful, and can create new bullets in a policy document
Kristi:
- should also follow-up on EGAPP non-Lynch S. colorectal cancer report
- American Assn. for Cancer Research (AACR) held a conference 4-5 mos. ago that
dealt with heritable colon cancer screening in unaffected populations; included costeffectiveness
- 2003 ASCO statement on hereditary colon cancer contains elements of informed
consent
Nicole:
- has huge collection at VA of articles on colorectal cancer and primary care
- sift for review-type, public health-related, trends-related pieces (research ->
institutionalization of testing -> personalization and DTC)?
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Other finds
-
-
Piece that came out negative on use of signatures for non-small cell lung CA
prognosis - article suggests need for additional research guidelines
Heather supplied several articles indicating the need for more GWAS signatures
before bladder CA study results are applied to GEPs. Validation studies of use of
gene signatures display mixed results. 1 of Heather’s articles was especially useful in
judging a commercial test for 2 bladder CA genes offered online.
Good to find articles which link areas, e.g., GWAS with GEP, or GWAS with DTC.
Coverage policies
- Have found several from Blue Cross and from Medica.
- These policies make distinctions w/r assay (e.g., Oncotype DX vs. MammaPrint) and
use – whether it’s established or investigative.
- Coverage issues are of great public health concern.
E. Personalized genetic testing: Policy and Regulation
Ashley Braun (acbraun@med.umich.edu); John Entine (jon@jonentine.com)
2. Cross-cutting Areas:
1. Access, availability, and coverage (including cost issues and procedural coding) (Kristi
Zonno (kzonno@mac.com); (Heather Honore (heather.honore@va.gov) lending
specialized help)
2. Clinical safety, accuracy, validity, utility (Kristi Zonno (kzonno@mac.com))
3. Guidelines dissemination and harmonization (Stephen Modell (mod@umich.edu))
4. Integration into public health (Heather Honore (heather.honore@va.gov))
5. Practitioner awareness and education (Nicole Exe (nexe@umich.edu))
Nicole:
- She has been reviewing articles in this area and sent summaries to Kristi and
Stephen.
- Has 13 provider preparedness articles with “Cancer” in the title, some looking at
different specialties (OB/GYN, internal medicine, oncology) + primary care
- Articles indicate differences in preparedness w/r genetic knowledge, test ordering,
referral
Kristi:
- Natl. Society of Genetic Counselors (NSGC) has policies on when to refer
- SACGHS has come out with a report on genetics education and training
- Worth looking over this most recent SACGHS report:
http://oba.od.nih.gov/oba/SACGHS/reports/SACGHS_education_report_2011.pdf
6. Federal and state regulation + public consultation (Ashley Braun
(acbraun@med.umich.edu); Heather Honore (heather.honore@va.gov); Dan Vorhaus
(DVorhaus@rbh.com))
Dan has lots of files and links he can make available as we refine topic areas
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Action Items:
1. Continue sending articles around: summaries, abstracts, links, whole articles
2. Begin writing based on collection of articles. Writing can consist of a few sentences, article
abstracts, policy statement paragraphs. Send to Kristi or Stephen. Will be part of next call.
3. Keep group updated on progress
4. Next call June 13th, 2011 4pm-5pm
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