There is an ongoing NIH-sponsored database effort called the Genotype-Tissue Expression (GTEx) project the goal of which is to collect data on genetics–not just DNA gene sequences, but also gene activity, looking at “expression,” which is reflected in the RNA that is transcribed from genes–in a wide range of human tissues. The tissues are obtained from deceased voluntary organ donors. The ethical issues are not unique, but representative of the challenges that our bioinformatics age present. Organ donors’ consent to donate a broader range of tissues is not documented in advance, nor is it assumed, but, like organs, the tissue specimens must be collected soon after death to prevent decay from compromising their usefulness. That means that consent for the tissue donation has to be obtained from grieving survivors, immediately after a loved one’s death that is often unexpected and shocking, and duress is unavoidable. The donation request comes out of the blue and donors’ survivors often don’t recall what they agreed to. The genetic expression information is usually not provided to the donors’ families, a situation that seems to be less tenable with the passage of time and the increase in genetic research. And there is the persistent issue of minority representation (the information could be valuable to help improve the health of minorities on a population basis), and the resurgent issue of whether the donors’ survivors ought to benefit from any financial gains that might come from the research.
Read a brief story about it here.
A story about the company 23andme includes an observation that its 2 million customers constitutes “the largest genetic study the world has ever known.” You can get a kit in the mail, send some saliva, and get back information about genes that might be associated with a number of traits, many trivial, like earwax consistency. With only limited FDA-approved exceptions for rare, clearly understood genetic diseases, you can’t get much health-related information from the company. FDA’s concern about such information being misleading, with potentially harmful consequences, almost sunk the company in 2013.Â But the data is still valuable to researchers, and to drug companies trying to use it to discover new drugs. So 23andme asks its customers for health information online, and drug companies can pay them, not for the actual data, which 23andme keeps to itself, but for results of analyses 23andme does on the data. I don’t know what sort of consent process is applied, but I’m guessing that an IRB was not involved. By the way, 23andme’s is now adding its own attempts to become a drug company in its own right, using drug development ideas that might spring from the genetic information it has for its customers.