Tag Archives: genetic alliance

Guest Post: Genetic Alliance winner of Art of Reporting Award

This next post in our continuing semi-regular Guest Post series is from Molly Brenner, of the Genetic Alliance. If you are a provider of a free, publicly available genomics tool, database or resource and would like to convey something to users on our guest post feature, please feel free to contact us at wlathe AT openhelix DOT com or the contact form (write ‘guest post’ as subject heading). We welcome introductions to your resource, information on updates, highlights of little known gems or opinion pieces on the state of genomic research and databases.

Genetic Alliance is thrilled to announce John Seng as the winner of the Art of Reporting Award to be presented at the Genetic Alliance 25th Anniversary Annual Conference this summer! The Art of Reporting Award acknowledges a media professional whose reporting contributes to public awareness and understanding about genetic advancements or advocacy organizations and their impact on real people’s lives.
Seng receives this year’s Award in recognition of his work with the Progeria Research Foundation (PRF) on the “Find the Other 150″ campaign. What started as a one-time pro bono service for PRF in 2003 developed into a multi-year partnership to raise awareness of and identify undiagnosed children with Progeria—a rare, rapid-aging disease—around the world. John Seng is founder and president of Spectrum, one of the nation’s top healthcare public relations firms, where he creates innovative campaigns for health and science organizations both large and small. “There is more to his innovation than marketing,” said Sharon Terry, chief executive officer of Genetic Alliance. “John embodies the human dimension of the science and the cause.” The Award will be presented on June 25, 2011, during the Genetic Alliance Annual Conference: 25 Years of Innovation. The conference is part of a year-long 25th anniversary celebration.
For more information about award winners, the Genetic Alliance 25th Anniversary Annual Conference, and how to get involved visit http://www.geneticalliance.org/25anniversary.

NHGRI wants your input

Man, it seems like everyone wants to hear from us these days….Here’s another request that came via The Genetic Alliance mailing list:

Dear Colleagues,

The National Human Genome Research Institute has embarked on a long-range planning process focused on the future of human genome research. To kick-start a conversation among our community, we have posted three white papers on our website to start the conversation on the following topics: diagnostics, preventive medicine, and pharmacogenomics; therapeutics; and education and community engagement.

These white papers are available for viewing and comment at http://www.genome.gov/About/Planning. We invite your review and comment in two phases. Phase 1, open now, will collect community thoughts solely on the questions posed in the white papers, aimed at ensuring we are asking the right questions. Phase 1 will continue through January 30, 2009. Once the questions are refined, Phase 2 will commence and collect community input regarding how best to answer the questions, probably starting in mid-February 2009 and continuing through mid-April 2009. Other white papers on other topics may be added as the process continues.

To stimulate discussion, comments received will be anonymously posted for viewing. Comments received through this white-paper process will be used to generate topics for further planning activities and workshops, which will be held in 2009 and 2010.

We encourage you to participate in this important discussion and look forward to your input. Since we would like this to be an inclusive process, please share this announcement with any colleagues who may be interested in participating.


Alan E. Guttmacher, M.D.

Acting Director

National Human Genome Research Institute, NIH

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.

Liveblogging the GenBank 25th Anniversary II

I’m preparing to liveblog this event again today, internets permitting:

GenBank: Celebrating 25 years of Service at NCBI: http://www.tech-res.com/GenBank25/ official announcement.

The agenda is here: http://www.tech-res.com/GenBank25/agenda.html

There is a link to a videocast of the event from the Celebration link, supposedly:
View event:

You will be able to view the event at http://videocast.nih.gov when the event is live.

Will try to update as often as I can, if I have decent wireless and power.

Session Chair: Steven Salzberg.

Continue reading

Genetic Alliance

Some people come to this blog looking for help and information about specific genetic conditions. Although that is something we may touch on from time-to-time as new data or databases may arise, it isn’t something we will focus on. But I wanted to provide a link to an organization that does really great work with the groups who can help with specific genetic issues: The Genetic Alliance.

They describe themselves as:

Genetic Alliance is a coalition of more than 600 advocacy organizations serving 25 million people affected by 1000 conditions. The organization works to transform leadership in the genetics community to build capacity in advocacy organizations and to educate policymakers by leveraging the voices of individuals and families.

They have helpful resources including disease information searches, organization searches, they are working on tissue banking to aid researchers who need to obtain samples (GA BioBank), they have mailing lists and wikis, and even a Guide for Understanding Genetics for Patients and Professionals.

They also advocate on medical and legal issues of public policy, including working hard for the GINA legislation to protect Americans from discrimination based on their genetic information.

A terrific organization. Check them out.