Proposed standards for genetic testing

A number of government agencies--FDA, CMS (Medicare/Medicaid), most states--have chosen not to address standards for genetic testing. So, it's somewhat ironic that a company in the industry today proposed standards and asked for input from the public.

Here are the standards they are presenting soon at a Personalized Genomics conference:

The company's proposed standards for personal genomic services will
include commitments to 10 specific criteria for performance, service and
quality, including:

1. Validity - of genetic association, epidemiological and clinical
information provided through the service and used to determine
predispositions for included health conditions

2. Accuracy and quality - of testing, with all samples processed in a
reputable CLIA-certified lab and in accordance with state and federal
regulation, with guaranteed analytical accuracy of 99 percent or more,
and with a "100 percent call rate" guarantee

3. Clinical relevance - of information provided, using only genetic risk
factors that show consistent effect sizes in multiple sample
populations of the same ethnicity; with supporting information vetted
by a team of experienced, clinically trained reviewers, and with
content screened or provided by leading medical institutions or
reputable, independent content providers

4. Actionability - associated with conditions included in the service, to
ensure that the promise of improved outcomes over time can be met, or
that at a minimum there is valid clinical or scientific information
available to demonstrate an ability to prevent, delay or enhance
treatment options for an included health condition

5. Access to genetic counseling - to ensure that each individual can
speak directly to a counselor, at their convenience, to understand the
implications of their particular profile, and that they can have
access to continued counsel over time as new findings or information
may change or expand their particular genetic predispositions

6. Security and privacy - to ensure that only the individual member has
access to their particular profile, and has complete control over
granting access to others; operating in a manner consistent with HIPAA
regulations; and using the latest measures to protect and safeguard
all member data, at a level at least consistent with what leading
financial institutions use

7. Ownership of genetic information - to acknowledge each member's right
to access their own genetic information and record

8. Physician education and engagement - to sponsor and ensure physician
access to relevant genomics-focused continuing medical education; to
incorporate specific tools into the service that enable physicians
direct access to general information on latest advancements in
genomics; and to enable members to share specific, personal genetic
information with health professionals in a productive way, should they
choose to do so

9. Transparency - regarding relative applicability, limitations and
specificity of genetic risk information, as well as assuring that
personal or aggregated genetic information will never be shared
without the full knowledge and consent of each individual member

10. Measurement - to assess the impact of the service on health outcomes
over time, and member response and experiences with the service in
the near and long term

I do not normally name companies, but today I applaud Navigenics, of Redwood Shores, California, for taking this critical step in bringing standards up for discussion.

Marie Godfrey, PhD

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