June 2010

Patient’s Genome Reveals Medical Risks

By evaluating the entire genome of a 40-year-old man, scientists estimated his risk for dozens of diseases. They also determined his likely response to several common drugs. The study shows how whole-genome sequencing might someday be used in the clinic.

Scientists today can figure out the sequence of all 3 billion “letters” in the human genome much more quickly and at a lower cost than ever before. If the genome shows an increased risk for certain conditions, patients could take steps to reduce their risk. They might eat a healthier diet, exercise more or take certain medications.

Researchers found that the man’s genome contained gene variants linked to several diseases that affect some of his family members. These disorders included cardiovascular disease and early sudden death. The scientists also uncovered gene variants linked to conditions not known to be in his family, such as thyroid disease.

Some variants even predicted the man’s likely responses to certain heart medications. That information might be especially helpful since he’s at risk for cardiovascular disorders.

“This work provides a glimpse of how genomics can play a role in personalizing the medical care of individual patients,” says Dr. Jeremy Berg, director of NIH’s National Institute of General Medical Sciences.

Although the study is promising, many scientific and ethical issues will need to be addressed before whole-genome analysis becomes widespread.