Edit ModuleShow Tags

What Your Genome Can Tell You

Though still in its infancy, DNA sequencing has the potential to explain everything. Here’s what doctors know now and a preview of what’s to come.


Published:

A person’s genome can tell them a lot about health risks, but it can also send false alarms. Some mutations, like the one associated with Huntington’s disease, indicate high risk. Others, like the so-called Alzheimer’s gene, may show increased risk, but hardly guarantee future dementia.

Genomic risk and reward is defined in percentages, which can lead to some difficult decisions. If a woman’s genome indicates she has a 50 percent chance of developing breast cancer, does it make sense to get a prophylactic mastectomy? What if her risk is 20 percent?

These are the conundrums that make headlines, but genomic data can tell us about a lot more than disease risk. For example, it can personalize medications and doses for individual patients.

“If someone is going on an antidepressant or an antipsychotic drug, based on how they are predicted to metabolize that drug, there are some drugs that would be more effective than others,” says Glenn Braunstein, chief medical officer at Pathway Genomics in La Jolla’s UTC area.

For Braunstein and others, the key to making genomic information useful is making it actionable. Ideally, genomic data would outline specific changes that help people overcome their genetic risks.

This is already happening in small ways. Aetna piloted a program that uses genetic testing to help employees with metabolic syndrome and other conditions manage their disease. Researchers at Harvard have shown that genomic information can help people make better decisions about their health.

“If you know you’re at risk for a condition, and there’s something you can do to ward it off, you will take that action,” says Braunstein.

We know quite a bit right now about cancer, heart disease, diabetes, rare diseases, and how people metabolize pharmaceuticals. So having your DNA sequenced is already worthwhile. And, obviously, the more people we sequence, the more we learn. This is particularly true of specific diseases. Right now there are many “variants of unknown significance,” or mutations that tend to show up in certain diseases but have yet to be conclusively identified as driving the disease or simply as innocent bystanders.

“The future is doing genomes when people are born and updating that information constantly as we figure out what all the data means,” says Braunstein. “If you could predict celiac disease and not expose young children to gluten, you could avoid a lot of discomfort.”

There are still issues to work out: data security and a dearth of genetic counselors are at the top of the list. However, having a personal genetic database could pay huge dividends.

“If we have genomic information on individuals from the start, we’ll have an incredible amount of information about medications, metabolism of medications, cardiovascular predisposition, diabetes, and obesity,” says Braunstein. “These can all help guide lifestyle and other decisions.”

Edit ModuleShow Tags
Edit ModuleShow Tags

More »Related Stories

Pre-Diabetes is Becoming an Epidemic in California

Psst. Carbs and smoking are still the enemy. Mobilize and prepare for battle.

When is a Senior Moment Actually Dementia?

How to prevent and identify cognitive decline

Book Excerpt: 'Vitamin N' by Richard Louv

Doctors are increasingly prescribing nature play
Edit ModuleShow Tags
Edit ModuleShow Tags

Most Popular

  1. Vote Now for San Diego's Best Restaurants 2019
    From pho to fries, you can choose San Diego's best eats and drinks in 99 categories
  2. Puesto's Next Top Taco
    Submit your best taco recipe for the chance to win a grand prize
  3. The Best Soup Dumplings in San Diego
    My hunt for the best xiao long bao in the city unearthed two surprising winners
  4. Behind the Brands 2019
  5. 21 Ultimate Road Trip Itineraries from San Diego
    These getaways will take you through California, Arizona, Nevada, Utah, and Mexico
  6. Win a Luxury Hotel Stay in Puerto Vallarta
    Soak up the sun during a three night stay at Garza Blanca Preserve Resort & Spa
Edit ModuleShow Tags

Promotions

Puesto's Next Top Taco

Submit your best taco recipe for the chance to win a grand prize

Not Your Grandma's Orthotics

New year, new – shoe? Staying on your feet for long hours at a time just got a whole lot more comfortable with Wiivv’s BASE custom insoles
Edit ModuleShow Tags
Edit Module
Edit Module

Connect With Us:

Edit ModuleShow Tags

Sponsored

Whale Watching Report from Hornblower for March 6–12

Whale watchers get their fill of gray whales, dolphins, and more

Shaping San Diego 2019

San Diego is a premier catalyst for innovation, creativity, and entrepreneurialism
Edit ModuleShow Tags
Edit Module Edit Module
Edit ModuleShow Tags
Edit ModuleShow Tags