Tag Archives: GINA

What would you do with your genome?

So last week I treated myself to my first vacation in a long time.  It was my birthday, and I wanted to disconnect a bit and recharge.  Mostly it worked, although the hundreds of emails I’m facing this morning are a bit daunting.  But just before I left I got an email from a colleague who asked me a really great question:

….I would love to know where you would start when you get back a personal genome sequence….

And I couldn’t shake this out of my head.  I was sitting on a bridge outside Windsor Castle thinking about it as the sun set on my first day.  (On subsequent days I found that the far superior ciders in the UK were able to push this question out of my head for some periods of time. And also pie.)

I’ve spent some significant time thinking about the onslaught of personal genomics, of course.  It’s all been very theoretical, because I would have refused to even begin the process of obtaining my personal genome sequence until the GINA legislation fully kicked in.  But now that barrier is down.  I’m still not ready to get mine done for a variety of reasons (cost, quality, informative value).  But it’s still worth thinking about what I would do with it if it was handed to me–in specific terms, with concrete actions.  So here’s what I decided I would do.  Your mileage may vary.  And I’d love to hear what others might do with theirs.  Follow the link for the specific actions I’d take.

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"Genetic Town Halls" report is available

I’m very interested in public policy and genetics. There are a number of threads that I was following along those lines. On the actual legislation I was watching the GINA efforts, and participating where I could. I was reading an article on the downstream effects of that today (Two Cheers for GINA, by McGuire and Majumder, Genome Med 2009, 1:6 doi:10.1186/gm6).  One sentence sums up my feeling on GINA–we absolutely needed some protection, but other problems in our health care and insurance systems will persist…

If significant sections of the public focus on these gaps in US policy, reluctant to enter the genomic era without a blanket guarantee against harm, GINA may fail to live up to the hopes of its supporters.

There was also a series of public meetings about biobanking and genetics research that I was following (Town hall meetings on genes + environment studies).  I wish I could have participated in these town halls to get a sense of the room full of people interested in this topic–but none of them were near me.  However, the report on these was just released and you can get the summary of the outcomes from the sessions:

Center releases report on genetic town hall series

….Most participants felt that the biobank should go forward, and more than half indicated they were likely to participate in it if asked. Among the issues participants weighed in on were privacy protections for participants and concerns about possible misuse of information collected, the nature of the proposed study’s consent agreement, and the ability to get individual research results back from the study….

If you go to the DNApolicy.org site you can download the report in PDF form.  It is clear that the participants were concerned about discrimination based on the information–especially by insurers, but also law enforcement.  And this is despite the passage of GINA during this timeframe.  There are privacy concerns in general, too.  And the potential for misuse for “nefarious” purposes.  They also saw the benefits–research and new knowledge, new medications, increased precision for treatments.

Thanks to the Genetics & Public Policy Center folks for the report.  Thanks to the Genetic Alliance Policy Bulletin mailing list for the heads-up.

Genetic studies: how the public feels

This week’s Genetic Alliance Weekly Bulletin led me to a paper that investigated public opinions on genetic research that I wanted to examine. The GA link brought me to this press release about the paper:

Four in five Americans support the idea of a nationwide study to investigate the interactions of genes, environment, and lifestyle, and three in five say they would be willing to take part in such a study….

This paper by Kaufman et al (Genetics in Medicine. 10(11):831-839, November 2008) kept me busy while waiting for a doctor’s appointment this week.

I think this is good news for the progress of research. And after we have GINA in place I might even take part in some. I would not have done so before, and I would have advised family members not to participate.

But there were a few things that struck me as interesting. First, in the study description that survey participants were to see there was no mention of possible implications of legal protection (or lack of). That’s something I would want to see in any kind of agreement and I would like to see how the public would respond with or without legal protection. {You can access the study descriptions that participants saw from the supplement page, the second PDF = Article Plus #2}

But maybe that’s just me. I’m a suspicious Yankee. In fact, in the paper it turns out that we were less likely to support the work than other regional groups.

% who would probably or definitely participate {snipped from Table 2}

Northeast: 57

Midwest: 59

South: 59

West: 64


Interestingly–91% of survey participants ‘wanted their individual research results about health risks “even if there was nothing [they] could do about them.”‘ It even went up from there when they were asked if they wanted to know if a genetic risk factor was found or if they were higher risk for a treatable or untreatable condition. This is going to require serious education of the general public to understand the data properly.

However–despite agreeing to this in the form of this survey, I wonder how many would actually go and participate. At one point the authors refer to their outcome of willingness to participate as in range with similar types of studies about donating blood or DNA for other purposes. I know it isn’t directly comparable, but the actual rate of blood donation for medical purposes is only 5%. I was shocked to hear that statistic one time. The authors do acknowledge in the discussion that support for participation is not the same as actually doing it.

An odd tidbit for people who are curious about the effectiveness of conveying information with a video format:

Viewing the video was a significant predictor of overall support for the study but not of people’s willingness to participate. Inflection, tone, and images in the audio and video may have given more concrete meaning to the words and increased understanding, may have lent a measure of credibility to the study description, or may have created a persuasive bias. However, though the difference in support for the study was statistically significant, it was not large.

For someone who spends a lot of time making movies that convey information this was a nice observation :) . But I can’t find the numbers on that.

The authors do muse about the passage of GINA and whether that would affect subsequent surveys. I wonder too. And they also conclude:

This suggests that more detailed research to explore what the public understands and believes about individual research results may be warranted.

I definitely agree with that.

The paper:

Subjects matter: a survey of public opinions about a large genetic cohort study.
Genetics in Medicine. 10(11):831-839, November 2008.
Kaufman, David PhD; Murphy, Juli MS; Scott, Joan MS, CGC; Hudson, Kathy PhD

DOI: 10:1097/GIM.0b013e31818bb3ab

What does GINA mean?

Coalition For Genetic Fairness logoIn the current deadlocked state of affairs in Congress, I am still shocked that the GINA legislation was able to make it through. And although some people didn’t understand why we needed it, it only becomes more clear that the information from even beneficial research could be misused.

The legislation still doesn’t take effect for a while (it begins to protect us only after May and November 2009), but one of the major groups lobbying for this bill has produced a user-friendly interpretation of what we should be able to expect from GINA. Things like what it does prohibit and what it doesn’t prohibit.

Here’s a piece of the press release:

The Coalition for Genetic Fairness today announced the launch of an interactive, online guide to the landmark Genetic Information Nondiscrimination Act (GINA). The resource, “What Does GINA Mean? A Guide to the Genetic Information Nondiscrimination Act” , summarizes the protections of the first civil rights legislation passed in the new millennium and outlines its impact on the future of health in America.

Check it out if you are curious about what GINA will do. You can find the whole thing on the Coalition for Genetic Fairness site and on the Genetic Alliance site as well.

Heads-Up from GenomeWeb: GWAS Data Being Closed from Public View

This was just NOT a headline I was expecting to see as I read my latest GenomeWeb email:

Forensic Breakthrough Stirs NIH to Close GWAS Data from Public View

I mean, so much of what I have been reading and seeing in resources lately is a push to make GWAS data available and possible to analyze. And all the enthusiasm we all felt after GINA finally passed. The headline took me by surprise. But now that I’ve gotten past my initial response, I’ve had some time to look into this a bit more & it isn’t an early April Fool’s joke. Researchers at the Translational Genomics Institute (TGen) and at UCLA used high-density SNP genotyping microarrays to accurately determine if an individuals DNA was included in a mixture of DNA from 200 people or more, even when the individual’s DNA accounted for less than 1% of the total DNA. Before this study, it has largely been assumed that pooled allele frequency data was too complex for any one individual to be identified as a member of the group contributing the DNA. The research and results are beautifully presented in the PLoS Genetics paper that I’ve reference below.

But the privacy implications of this research are huge & already causing major changes in the way that GWAS data is being presented – as indicated by the title of the GenomeWeb article. NIH has altered their GWAS data access policies, and today it was announced that the data from two such studies have been removed from the the UCSC Genome Browser. I am glad that the authors of the research raised their concerns with NIH well in advance of publication, and I’m glad that NIH and other resources are taking the privacy concerns so seriously – I just hope everyone (read popular media) reacts as calmly and intelligently and that this doesn’t cause an unwarranted back-pedaling on all GWAS efforts. I am very anxious to see the public reaction (if any) to this, and how this all turns out. Where do you think this will take us? Do comment with your thoughts!

Here’s where I got my information:
Jiali Han, Peter Kraft, Hongmei Nan, Qun Guo, Constance Chen, Abrar Qureshi, Susan E. Hankinson, Frank B. Hu, David L. Duffy, Zhen Zhen Zhao, Nicholas G. Martin, Grant W. Montgomery, Nicholas K. Hayward, Gilles Thomas, Robert N. Hoover, Stephen Chanock, David J. Hunter, Gonçalo Abecasis (2008). A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation PLoS Genetics, 4 (5) DOI: 10.1371/journal.pgen.1000074

2. National Institutes of Health: Modifications to Genome-Wide Association Studies (GWAS) Data Access (August 28, 2008) http://grants.nih.gov/grants/gwas/data_sharing_policy_modifications_20080828.pdf

3. Forensic Breakthrough Stirs NIH to Close GWAS Data from Public View

(August 29, 2008 By Matt Jones, a GenomeWeb staff reporter) http://www.genomeweb.com/issues/news/149097-1.html?type=pf


4. TGen, UCLA Scientists Reveal Approach for Finding Needle in Genetic Haystack (August 29, 2008 By Andrea Anderson, a GenomeWeb staff reporter) http://www.genomeweb.com/issues/news/149084-1.html


5. TGen scientists uncover new field of research that could help police in crime scene forensics (PHOENIX, Arizona – August 29, 2008) http://www.tgen.org/news/index.cfm?newsid=1204#


6. [Genome-announce] GWAS data access removed from UCSC website (Donna Karolchik, Tue Sep 2 09:06:57 PDT 2008) https://www.soe.ucsc.edu/pipermail/genome-announce/2008-September/000138.html

G-I-N-A the Musical

The successful passage of the GINA legislation (Genetic Information Nondiscrimination Act) was long in coming, and the celebrations are still going on. The Genetic Alliance newsletter just offered a link to a video from the celebration, which includes Francis Collins for the soundtrack and celebrants showing us how to dance to G-I-N-A. I don’t see this moving to MTV any time soon, but some of you will enjoy this.


There are more videos from the GINA celebration linked from the Collins video page–our huge thanks to all those people who worked so hard and so long to pass this important legislation.


NHGRI webinars–first one this Thursday.

Just got this notice from the Genetic Alliance newsletter:


You can learn more at the NHGRI site: http://www.genome.gov/27527023 This first one appears to be:

All About the Genetic Information Non-Discrimination Act of 2008 (GINA)

What is GINA? How will it affect me? How will I – and my family – be protected? Join NHGRI Deputy Director Alan Guttmacher, NHGRI Health Policy Analyst M.K. Holohan, and President and CEO of the Genetic Alliance Sharon Terry on July 17, 2008 at 1 p.m. Eastern to learn about this ground-breaking act that was passed into law in May 2008.

It does look like you have to register, so be sure to check out the NHGRI site and reply to that email for details.

I can’t attend–someone let me know how it goes! I wish I could hear it, I’ve been following this legislation for a long time….Maybe it will be available as a recording later, I can’t tell.

California halts personal genomics testing?

Whoa. Usually I don’t get my genetics news from Forbes, but I thought this was interesting for this field. My Bio SmartBrief email today had a link to this tidbit:

California Orders Stop To Gene Testing

California becomes the second big state to crack down on companies that offer gene tests to consumers via the Web. This week, the state health department sent cease-and-desist letters to 13 such firms, ordering them to immediately stop offering genetic tests to state residents….

23andme did not immediately return calls Friday afternoon. Navigenics confirmed it had received a letter. Navigenics Chief Executive Mari Baker said her company continues to process orders from California residents because “to the best of our knowledge, we are in compliance” with state law….

This area seems so wild-west to me at this point, I’m interested to see how this turns out. For specific information on clinical gene tests at this point I use GeneTests.

They have a whole section of laboratory listings and the tests they perform. When we developed our tutorial on GeneTests they made us aware of this great graphic about tests available today. The growth in available tests is remarkable–and it is just the beginning. Thanks to Congress for GINA, but man…I’m daunted by the possibilities, and I know what the testing can and can’t tell you.

Francis Collins resigning….

Wow, this is a big deal. I was surprised to learn this from a few sources, including Salon and an email I just found in my inbox. It is from the Genetic Alliance announcements list. I can’t find it on their website yet…but here is a copy of the announcement from NHGRI.

I was just enjoying the photo of a smiling Ted Kennedy and Francis Collins with the inimitable Louise Slaughter this week, too. What a team. This photo is my favorite, but there are more over at the Genetic Alliance photo page.


He is an impressive guy, and has done great things for this field. And I’m so glad that he was involved in getting the GINA legislation passed. Many thanks for Francis Collins for getting us to where we are today.

EDIT: I just found some videos of him actually singing…but is messes with the blog so you’ll have to search YouTube yourself. Here was one that was all DNA: http://youtube.com/watch?v=YXERB6me9ZE

BREAKING:GINA signed today! {updated with press release from GA}

The rumor I hear is that there will be a small, quiet signing ceremony in the Oval Office. What I heard publicly is this, from the Genetic Alliance newsletter:


I will update if I find out any more….By the way, at that link there [was] is a great photo of Ted Kennedy and Francis Collins, Louise Slaughter, Judy Biggert and Robert Andrews after the “victorious vote”. I can’t find a public version of it right now or I would bring it over.


MAY 21, 2008

For More Information Contact:
Sharon Terry – sterry@geneticalliance.org or 202.966.5557 x201 Iris Maldonado – imaldonado@amplifypublicaffairs.net or 202.263.2580

President Bush Signs Landmark Genetic Nondiscrimination Information Act Into Law

Washington, D.C. – May 21, 2008 – The Coalition for Genetic Fairness (http://www.geneticfairness.org/) commends President George W. Bush for signing into law today the first civil rights legislation of the new millennium, the Genetic Information Nondiscrimination Act (GINA). GINA is the first and only federal legislation that will provide protections against discrimination based on an individual’s genetic information in health insurance coverage and employment settings.

“This is a tremendous victory for every American not born with perfect genes – which means it’s a victory for every single one us,” said Representative Louise Slaughter (D-NY). “Since all of us are predisposed to at least a few genetic-based disorders, we are all potential victims of genetic discrimination.”

“Today marks the beginning of a new era in health care,” continued Slaughter. “Americans can finally take advantage of the tremendous potential of genetic research without the fear that their own genetic information will be used against them.”

Just a few weeks ago, GINA received overwhelming support in both the Senate, with a unanimous vote of approval, and the House of Representatives, where the legislation was passed by a landslide vote of 414-1.

”Individuals no longer have to worry about being discriminated against on the basis of their genetic information, and with this assurance, the promise of genetic testing and disease management and prevention can be realized more fully,” stated Sharon Terry, president of the Coalition and CEO of Genetic Alliance (http://www.geneticalliance.org/).“We applaud our champions on the Hill who have worked tirelessly to pass this important legislation. It is now our responsibility to make sure the public knows that these new protections are in place.”

The health insurance protections offered by GINA are expected to roll out 12 months after the bill is signed, whereas the employment protections will be fully realized in 18 months.

“Now that GINA has been approved and signed into federal law by the President, American health care consumers and employees will no longer have to fear the adverse effects of being tested to determine their risk status for genetic diseases,” said Joann Boughman, Ph.D., executive vice president of the American Society of Human Genetics (http://www.ashg.org/) and a member of the Coalition’s executive committee. “Once this legislation has taken effect, clinicians will be able to order genetic tests for patients and their families in a manner that ensures the full realization of the advantages of personalized medicine models, while easing patients’ concerns about the risk of genetic discrimination by insurance companies and employers based on this data.”

Specifically, the legislation protects against genetic discrimination by health insurers or employers by:

• Prohibiting group health plans and issuers offering coverage on the group or individual market from basing eligibility determinations or adjusting premiums or contributions on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information.

• Prohibiting issuers of Medigap policies from adjusting pricing or conditioning eligibility on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information.

• Prohibiting employers from firing, refusing to hire, or otherwise discriminating with respect to compensation, terms, conditions or privileges of employment. Employers may not request, require or purchase genetic information, and may not disclose genetic information. Similar provisions apply to employment agencies and labor organizations.

The Coalition for Genetic Fairness is an alliance of advocacy organizations, health professionals, and industry leaders working to educate Congressional policymakers about the importance of legal protections for genetic information and ensure passage of meaningful genetic information nondiscrimination legislation. The Coalition for Genetic Fairness is led by: Genetic Alliance, Affymetrix, American Academy of Pediatrics, The American Society of Human Genetics, Brown University, Hadassah, National Society of Genetic Counselors, and the National Workrights Institute.
Coalition for Genetic Fairness • http://www.geneticfairness.org • 4301 Connecticut Ave. NW #404, Washington DC • 20008-2369 • Phone: 202.966.5557 • Fax: 202.966.8553