Study of the Day: Family DNA Test Changes Disease-Risk Analysis

More

New research from Stanford's School of Medicine enables genetic medical-risk assessments on the familial and ethnic level

main dsearls flickr 2659355787_7498a6cff4_o.jpg

PROBLEM: There's not a lot of nuance when it comes to DNA analysis. Typically, a person's genes are understood with the help of a composite of the entire world's, courtesy of the Human Genome Project. Family- and ethnicity-specific hereditary information are largely ignored, precluding a more thorough measurement of medical risk for disease.

METHODOLOGY: Stanford University School of Medicine led by Frederick Dewey analyzed DNA samples from the four-person West family that included a whole-genome interpretation of medical risks, a first in genetic research. The researchers also created new ethnically matched reference genomes against which the family's genomes could be compared to enable the detection of rare disease risks. (A previous report focused on the genetic cause of a rare disorder affecting the children of a family.)

RESULTS: The team identified multiple variants in genes related to clotting in the West family's genomes. Interestingly, they also identified the exact physician-determined dosage of anticoagulants that John, the father, was already taking, and predicted the dosage that Anne, the daughter, may one day need. (John and Anne co-authored the study.)

CONCLUSION: Inherited health risks of a four-person family can be measured by analyzing their whole genome sequences. Comparing a family's genetic information to reference genomes that are ethnically matched can also help detect rare diseases.

IMPLICATION: This study promises a new era of personalized medicine where treatment can be based on individual genetic risks, says Rochelle Long, the director of the National Institutes of Health Pharmacogenomics Research Network, one of the study's sponsors.

SOURCE: The full study, "Phased Whole Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence," is published in the journal PLoS Genetics.

Image: dsearls/Flickr.

Jump to comments
Presented by

Hans Villarica writes for and produces The Atlantic's Health channel. His work has appeared in TIME, People Asia, and Fast Company.

Get Today's Top Stories in Your Inbox (preview)

Adventures in Legal Weed

Colorado is now well into its first year as the first state to legalize recreational marijuana. How's it going? James Hamblin visits Aspen.


Elsewhere on the web

Join the Discussion

After you comment, click Post. If you’re not already logged in you will be asked to log in or register. blog comments powered by Disqus

Video

Adventures in Legal Weed

Colorado is now well into its first year as the first state to legalize recreational marijuana. How's it going? James Hamblin visits Aspen.

Video

What Makes a Story Great?

The storytellers behind House of CardsandThis American Life reflect on the creative process.

Video

Tracing Sriracha's Origin to Thailand

Ever wonder how the wildly popular hot sauce got its name? It all started in Si Racha.

Video

Where Confiscated Wildlife Ends Up

A government facility outside of Denver houses more than a million products of the illegal wildlife trade, from tigers and bears to bald eagles.

Video

Is Wine Healthy?

James Hamblin prepares to impress his date with knowledge about the health benefits of wine.

Video

The World's Largest Balloon Festival

Nine days, more than 700 balloons, and a whole lot of hot air

Writers

Up
Down

More in Health

Just In