They are called “incidental” findings, but for the volunteers involved they could be the opposite. Accidental discoveries during research on human volunteers can bring to light serious implications for the subjects’ health, but in the past the norm has been not to tell volunteers. This is particularly crucial in human genetics research which can show a life-threatening predisposition to disease, for example where a chromosomal deletion confers a risk for a dangerous heart arrhythmia. In a situation like this, seeing a heart specialist could save the volunteer’s life.
They are called “incidental” findings, but for the volunteers involved they could be the opposite. Accidental discoveries during research on human volunteers can bring to light serious implications for the subjects’ health, but in the past the norm has been not to tell volunteers. This is particularly crucial in human genetics research which can show a life-threatening predisposition to disease, for example where a chromosomal deletion confers a risk for a dangerous heart arrhythmia. In a situation like this, seeing a heart specialist could save the volunteer’s life.
A pioneering project by the Corriell Institute for Medical Research in New Jersey is breaking the mould in volunteer care in research. The project aims to recruit 10,000 volunteers before the end of 2009, whose genomes (genetic sequences) will be scanned using Single Nucleotide Polymorphism (SNP) chips. The research aims to uncover links between single-point mutations in the genome and the risk of common conditions such as heart disease.
In addition to this an external oversight board, the Informed Cohort Oversight Board (ICOB), will review findings of medical relevance and inform the subject if it feels that harm can be alleviated in some way. The ICOB is headed by Dr Erin O’Shea of Harvard University.
One fear held of genetic scans is the health insurance and employment implications of getting bad news. But this project has these bases covered – as outlined on its website, in New Jersey it is illegal to discriminate based on genetic information for either employment or health insurance purposes. “This protective New Jersey law applies to all participants… regardless of where the participant resides.”
In addition to all of this the project is willing to help volunteers understand their results. Although the project advises consulting with a GP first and foremost in the event of a risk being discovered, it does offer free advice from one of two full time genetic counsellors.
As the website of the project notes, “This research-study is a forward-thinking, collaborative effort.” Until now, this kind of genetic study has generally avoided issuing subject data unless left with no choice because of the administrative difficulties and costs involved.
Indeed many scientists are against passing on information to subjects because they believe the costs involved will make research ineffective, and also note that research scientists are not physicians and do not have the same duty of care.
