Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
Getting Results Back
As part of Genomics Law Report's ongoing series, "What ELSI is New?" Daniel MacArthur considers the issue of whether researchers should return medically relevant, or even just interesting, results to study participants. He says that "in the absence of convincing evidence that disclosure of results causes harm, I would argue that the default position should be that research participants have complete access to their own genetic data if they request it." MacArthur says this is not only an ethical imperative but a move that could improve study recruitment and retention rates by providing a benefit to the participant.
Similarly, 23andMe's Anne Wojcicki says that she is "disappointed" that Kaiser Permanente will not be returning data to the 100,000 participants in its Research Program on Genes, Environment and Health, that will study genetic and environmental factors affecting common diseases. "Kaiser should afford the participants the respect they deserve by allowing them to decide for themselves whether they want to see their own genome," she writes at the Spittoon, expanding on her remarks at the TEDMED meeting.
As the Genomics Law Report points out, Kaiser Permanente's Cathy Schaefer responds at the Robert Wood Johnson Foundation Pioneering Ideas blog that all the participants know when they sign up for the study that their results won't be given back to them. "We also inform participants that if we discover something in their data or samples that may be important to their health, we will contact them to learn if they want to have the information," Schaefer adds. She says they aren't returning full results since the role of some variants in disease isn't fully known and that some results aren't actionable.
This boils down to "who
This boils down to "who decides?" The key difference in attitude is illustrated by Kaiser's Cathy Schaefer when she says "if we discover something in their data or samples that may be important to their health, we will contact them..." Why should Kaiser be the arbitor of what facts participants may learn about their own bodies? What if Kaiser withholds information that others consider very useful? How does this square with the ethical concept of autonomy, or the public health goal of health literacy? It has been almost 40 years since the 1970 publication of "Our Bodies, Ourselves," the landmark effort to help women learn about their own bodies. We need to move forward on education and information, not backwards. Kaiser should make the data available to all participants unless they ask not to see it.
Giving participants a data
Giving participants a data file with their genetic SNPs is not useful information- for the participant or for the majority of health care providers. I agree with kaiser's approach that relevant information should be provided to the participant with their agreement. Telling someone that they have a gene that means they have an increased risk for dementia (for example) cannot be sent in an email or in a data table. Telling an individual about their increased risk for a disease requires thoughtful, informed counseling by educated counselors.
Is it information? Or is it
Is it information? Or is it medical diagnosis? I am curious on other physicians' views.
It should be recalled that
It should be recalled that there is other, non-medical information hiding in genomic sequence data. Non-paternity, ethnicity, even sex-reversals (ok maybe that's medical) can be detected, and people may not want to know, or may not have even thought about these possibilities when they agreed to participate. Is it possible to describe all these possible (though rare) outcomes in terms that all participants will be sure to understand, in advance of receiving potentially disturbing information? Also, what about absolute error rates in the data, especially false positives. I would myself not want to be rseponsible for every participant understanding the statistical limits on some data interpretations. Presumably someone who does not comprehend all these caveats in advance, then gets disturbing information, could decide to take legal action, and might even get away with it. It's a big risk to take.