Genetic Testing

ELSI: Ethical, legal, and social issues of genomics

Just returned from a conference in Cleveland, Ohio, dealing with the many different aspects and potential effects of sequencing the human genome. I'll write in the next couple of days about items that particularly interested me.

But first, what is genomics?

I hate to admit it, but when I first joined a group at the Utah Department of Health to discuss genomics, I had no idea what it was. Surprising to me was the fact that others gave me quick definitions, but they varied considerably. So, here's some of the ones you might consider:

Wikipedia: Genomics is the study of an organism's entire genome. The field includes intensive efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping efforts. The field also includes studies of intragenomic phenomena such as heterosis, epistasis, pleiotropy and other interactions between loci and alleles within the genome. In contrast, the investigation of single genes, their functions and roles, something very common in today's medical and biological research, and a primary focus of molecular biology, does not fall into the definition of genomics, unless the aim of this genetic, pathway, and functional information analysis is to elucidate its effect on, place in, and response to the entire genome's networks.

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Making informed decisions about genetic tests

In response to the increasing availability of genetic tests the American College of Medical Genetics has issued a policy statement on direct-to-consumer genetic testing. It includes five minimum requirements for any testing protocol:

  • A knowledgeable health professional should be involved in the process of ordering and interpreting a genetic test.
  • The consumer should be fully informed regarding what the test can and cannot say about his or her health.
  • The scientific evidence on which a test is based should be clearly stated.
  • The clinical testing laboratory must be accredited by CLIA, the State and/or other applicable accrediting agencies.
  • Privacy concerns must be addressed.

Visit http://www.acmg.net for the complete ACMG Policy Statement.

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Genetic testing companies under investigation

In an article in April 24's San Jose Mercury News, author Steve Johnson reports that "New York authorities are scrutinizing at least two Bay Area [California] companies offering consumers genetic tests, and California health officials have at least six gene-testing companies under investigation."

At issue in New York are regulations that require a clinical laboratory permit for specimens. Here are some more details:

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Senate responds to pressure from citizens--GINA passes 95-0

Rushing to leave the house yesterday for an update on public responses to the biobank project being considered by the NIH, I had to leave the final voting to be captured on my DVR. Even at that time, it was obvious that the Senate was going to overwhelmingly approve passage of the Genetic Information Nondiscrimination Act.

It was interesting after that to hear comments:

"We helped get that done," from Kathy Hudson, head of the Genetics Public Policy Center.

"Thank you, everyone, for your tremendous efforts," from Sharon Terry, head of the Genetic Alliance.

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GINA expected in Senate 24 April

My e-mail has been buzzing all day with messages about efforts to get the Genetic Information Discrimination Act to the floor of the Senate. Word is this will happen tomorrow. If you haven't expressed your opinion yet through your Senators, please call or e-mail them ASAP. You can find them quickly by typing "state name" plus Senators into your favorite search engine. That will get you their preferred e-mail form and their contact phone number.

According to an article that appeared today in The New York Times,

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Genetic Nondiscrimination

The Center for American Progress has an excellent (long) article on genetic nondiscrimination, wih the title, Genetic Non-Discrimination, Policy Considerations in the Age of Genetic Medicine. The artcile represents a summary of a full report, also available on the website.

After a brief introduction to genomes and genetic testing, they state:

For individual Americans, this growth of genomic data means more accurate personal genetic information will become available to them, their physicians and, yes, their insurance companies, to make perhaps monumental health care decisions. This new information could well be a blessing or a curse, depending on how it is handled by patients, their doctors and their insurers. That’s why legislation based on the best bioethical principles needs to be enacted by Congress this year.

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This week! Senate addresses genetic nondiscrimination

After considerable efforts from hundreds of organizations trying to protect your genetic privacy, it's time for you to act.

GINA, the Genetic Information Nondiscrimination Act, is finally supposed to be debated on the Senate floor this week, perhaps on Monday the 21st (April). Here's how you can help:

1. To find out whether one or both of your senators is a cosponsor, check at
http://thomas.loc.gov/cgi-bin/bdquery/z?d110:SN00358:@@@P

2. If your senator is a cosponsor, call and thank your senator for supporting this bill. Phone numbers are easy to find at http://geneticalliance.org/senator.list

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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.

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Genetic testing benefits and risks--NPR Science Friday

Although I am a regular listener to public radio, I tend to keep my dial on the local all-classical station, avoiding the many talk shows on the statewide public radio station. So, I keep forgetting to listen to Science Friday with Ira Flatow. Luckily for me--and you--NPS provides the full broadcast for listeners to access at any time.

All you have to do is register on the NPR site, by giving your name, age, e-mail address, and a password you select. You don't even have to wait for acceptance or acknowledgement from the website.

Once you have logged in, you can select a specific program (Science Friday) to hear and click on other audios to get the particular one you want. Or, of course, you can go directly there and scroll down to select the April 4 edition of Talk of the Nation: Science Friday.

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Thank you, Johns Hopkins University Alumni Foundation

I have just decided that I can afford to return to being a real scientist--one who reads original publications, not just extracts and reports on them in public media. For some time, I have known that Johns Hopkins allows me, as an alumnus, access to its libraries online. I just haven't really dug in and used that privilege.

A recent reminder, and the helpful person who sent me my alumna ID number, allowed me to sign up and access the real article I described in my blog posted less than an hour ago! Now, I'm really in business and can read the original stuff rather than always relying on "translations". Sure, I could go to one or more of the local universities--there are many in Portland--but, I'm essentially lazy and have a short attention span. By the time I managed to get there, I would have forgotten what I was looking for.

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