And no not your typical X-Men style.
A study has now found that one in every five seemingly healthy individual carries a disease-related genetic mutation.
In a randomised clinical trial screening the genomes of 100 healthy adults undertaken by scientists at the National Human Genome Research Institute has revealed so.
The study had the volunteers producing their family history to the primary physician, and then they were randomly assigned to undergo a full genomic workup, which cost about $5000 each and were examined for subtle DNA sequence changes, known as single-nucleotide variants, across 4600 genes. Of the participants whose genome was sequenced, 11 had alterations or mutations in at least one letter of DNA suspected to cause rare diseases.
The team also found in every sequenced patient at least one recessive mutation linked to a disease—a single copy of a mutant gene that could is capable of causing an illness in case if two copies are present.
This knowledge the scientists believe, can be used to make reproductive decisions, a partner could get tested to see if they have a matching mutation and prompt family members to get tested for the same to ensure the copies don’t get doubled leading
to the expression of the mutation in the offspring.Last week bioRxiv had another publication yielding similar results. Scientists at the Stanford Center for Genomics and Personalized Medicine in Palo Alto, California found that 12 out of 70 which is approximately 17% of the healthy adults tested, unknowingly had one or more DNA mutations that increased the risk for genetic diseases.
Looking at both studies, it is probably fair to say that physicians should look at genes beyond the ACMG’s 59 top priorities and whole-genome sequencing should by default be incorporated into primary health care system.
