A new article in Science Magazine points to two new studies that indicate that “healthy” people may be harboring genomic signs of potential future health problems. This type of preventative testing fits into the precision medicine model.
Together, the studies suggest that sequencing the genomes of otherwise healthy adults can for about one in five people turn up risk markers for rare diseases or genetic mutations associated with cancers.
One team also found that every sequenced patient carried at least one recessive mutation linked to a disease—a single copy of a mutant gene that could cause an illness if two copies are present. That knowledge can be used to make reproductive decisions—a partner may get tested to see if they have a matching mutation—and prompt family members to test themselves for carrier status.
The other, using whole-exome sequencing, which looks only at the protein-coding regions of the genome, found that 12 out of 70 healthy adults, or 17%, unknowingly had one or more DNA mutations that increased the risk for genetic diseases for which there are treatment or preventative options.
Read the whole article at Science Magazine here.