Is Whole-Genome Sequencing in Primary Care Clinically Worthwhile?

The cost of genome sequencing has plummeted during the past 20 years, and the day of the “US$1,000 genome” — the cost of sequencing an individual's entire genome — has arrived. Does this relatively low cost make the procedure worthwhile for people without family histories of highly heritable conditions? To find out, researchers randomized 100 healthy primary care patients without such family histories (age range, 40–65) to receive family history reports alone (FH) or with whole-genome sequencing reports (FH+WGS). The patients then discussed their reports with their primary care physicians (PCPs).

Eleven patients in the FH+WGS group had single genes that substantially affect disease risk, but clinical evidence of disease was seen in only 2 of…