Patient's Whole Genome Shows Disease Risks, Drug Responses

The study brings closer to reality the concept that whole-genome sequencing might one day play a clinical role.

The analysis supported by the [U.S.] National Institutes of Health (NIH; Bethesda, MD, USA), was published in the May 1, 2010, issue of the journal Lancet. The authors, a collaboration of scientists from Stanford (Stanford, CA, USA) and Harvard (Cambridge, MA, USA) universities, evaluated the genome of a 40-year old man and compared it to several databases of disease-related gene variants. They also factored in the patient's medical and family history and statistical disease risks. As part of the research, the scientists provided the patient with genetic counseling and clinical tests applicable to his family history.

The genome analysis revealed variants associated with diseases in the man's family (osteoarthritis, vascular disease, and early sudden death). It also found variants linked to conditions not in his family (iron overload and thyroid and parathyroid diseases). Some variants suggested that he might have unusual responses to certain heart medications, which is significant in light of his risk for cardiovascular disorders.

The investigators view their research as a proof of concept that whole-genome sequencing can yield clinically useful data for individual patients. They acknowledged that many hurdles still remain, including the effect of the environment, which is difficult to quantify and frequently changes throughout an individual's life. The researchers concluded that the transition to genome-informed medical care would require an integrated team including medical and genetics professionals, ethicists, and healthcare delivery organizations.

Related Links:
Stanford University
Harvard University