ASHG Speakers: People Want Their Genetic Data

The pace of human genetic research shows no signs of slowing. SNP chip technology is allowing researchers to make connections between DNA and disease in ways that were never before possible. Fast, cheap whole genome sequencing, and the avalanche of data it will bring, is just around the corner. And for the first time ever, everyday people can now access their own genetic data and find out what this all means for them.

There has been concern that consumers are not ready for, and may not even want to know about, their genetic data. Several presentations on Wednesday in Philadelphia at the American Society for Human Genetics meeting, however, indicated that not only are people interested in finding out more about their genetics, they are not nearly as frightened by or naïve about genetics as many have thought.

Throughout the talks, the theme of “information seekers” emerged. It seems many people want to know about themselves and are excited about the new genetic technologies becoming available.

Colleen McBride of The National Human Genome Research Institute started off a morning session entitled “Shaping the Future of Personalized Genetic Information – Today” by describing the Multiplex Initiative, a large, multi-year project that is offering genetic testing to a diverse set of patients from the Henry Ford Health System in Detroit. The aim of the project is to assess whether there are people who are really interested in this type of testing, who these people are and how they understand and respond to this information. The recruitment phase of the project, which offers testing for SNPs related to 15 different diseases and conditions, has just been completed. Approximately 14% of the patients given the opportunity to participate in the project accepted.

McBride said that phone interviews with participants have revealed that they understand the type of information they are receiving indicates only moderate increases in risk. People also seem to be far less deterministic in their thinking about genetics than many have worried. For seven selected conditions people rated behavior as far more important than genetics in determining risk. This was especially so with regard to lung cancer.

McBride was followed by Bob Green from Boston University, who talked about the impact and utility of personalized genomic information in the context of the REVEAL study, which is exploring the social and ethical implications of APOE testing for Alzheimer’s disease.

According to Green, about 25% of the population has one copy of a version of the APOE gene called E4 that puts them at around three times the risk of developing Alzheimer’s disease as someone who has no copies of this variant. The 2% of the population with two copies of this variant have risk that is increased by around 15 times.

Several expert panels have recommended that people not be given information on their APOE E4 status. But Green said his group chose to pursue their research to really find out if this information would be “beneficial or toxic,” as it may one day be useful to know about APOE for research or treatment decisions. He added that there is also the need to know how to respond to people who have a family history of Alzheimer’s in their family and want to know what their own DNA has in store for them.

“It’s patronizing to say we can give the info but we’re not going to,” Green said.

Green’s group found that people who met with a counselor and received their APOE E4 genetic data in addition to a risk assessment based on other factors had the same amount of anxiety or depression as those who received only the risk assessment. In another protocol where people who met with a counselor were compared to subjects who received their results in a mailed brochure, his study also found very little difference in anxiety level. People who found out they were APOE E4 positive and were given only the brochure exhibited slightly increased anxiety six weeks after receiving their results, but not at a level that would be considered clinically significant, Green said.

According to Green, no matter what the genetic results, subjects were glad they had done the test and would recommend it to others. The most dissatisfied subjects in the study were those who were randomized to the group that did not receive genetic information.

The final speaker at the session was Kathy Hudson of Genetics and Public Policy Center at Johns Hopkins. Her group is investigating how people react to the idea of a large study to investigate the interactions of genes, environment and lifestyle. The theoretical study would recruit 500,000 people who would be followed for a decade. Biological samples would be collected and genetic information would be stored in a centralized database that would then be available to researchers.

Hudson focused her presentation on the question of whether people want to receive their own information back from the study, a practice that is at odds with traditional methods of research. While there were some people who felt they would rather just not know, a commitment from researchers to return results to individual volunteers was a major factor for many people in saying they would participate in such project, even if there was not immediate usefulness of the information.

David Kaufman, the leader of the study Hudson described, spoke in a session later in the day. He presented results showing 84 percent of those surveyed said they would support the proposed large cohort study and 60 percent indicated they would definitely or probably participate in such a study if asked.

Hudson said these results indicate researchers need to rethink their ideas about severing the link between subjects and their data, and reevaluate if their methods really are protecting subjects.