As genome sequencing becomes more affordable should you do it?

Genome sequencing is becoming more affordable than ever before – several companies in the industry say the $1,000 personal genome is just around the corner. But, even if you can afford it, is mapping your genes worth it if you don’t have a specific medical condition to consider?

Despite the whole “knowledge is power” argument – it could help with early diagnosis and prevention or lead a doctor to better treatment options for an existing condition – sequencing skeptics raise valid concerns and questions when it comes to gene sequencing for healthy people. How precise is it? How well will consumers be able to interpret the results? Will it just lead to needless hand-wringing about conditions that people won’t be able to do to much to address or that won’t surface until much later in life?

For now, those are questions for people with only the deepest pockets. But it won’t be long before the conversation becomes more relevant for more of us and, in the Wall Street Journal this week, two doctors weigh in with the pros and cons of the debate over whether healthy people should have their genomes sequenced.

Dr. Atul J. Butte, division chief and associate professor at the Stanford University School of Medicine and director of the Center for Pediatric Bioinformatics at Lucile Packard Children’s Hospital in Palo Alto, Calif., takes the pro position. And Dr. Robert Green, a medical geneticist at Brigham and Women’s Hospital and Harvard Medical School in Boston, argues against it.

Even though Dr. Butte acknowledges that gene sequencing isn’t perfect, he believes the positives outweigh the negatives. He says:

  • Identifying DNA variants that are early indicators of disease can lead to early diagnoses and preventative strategies.
  • Couples planning families can learn whether they carry genetic risks for serious disorders.
  • Doctors can better figure out the most effective drugs for a patient or what to avoid
  • It can help in the diagnosis of illnesses that haven’t yet been identified.

On the flip side, Dr. Green believes that while affordable genomic analysis opens the door to personalized disease prevention and treatment options, there are still roadblocks. For example:

  • Medically dangerous gene mutations are rare in healthy individuals but it would still be very expensive to find them – less than 2 percent of healthy people have a dangerous DNA mutation that would spur a doctor to monitoring or treatment. Assuming sequencing costs $5,000 now, it could cost $250,000 to find one person with a mutation.
  • Known mutations may or may not carry the same risk without a family history, so sequencing alone can’t always lead to action.
  • Geneticists don’t always agree on whether gene mutations are dangerous.

When it comes to health, I tend to fall on the side of information – the more of it we have, the better off we are. And the rise of consumer-ready medical technology that gives us clearer windows into our bodies – from Fitbits (see disclosure) to the AliveCor iPhone-compatible heart monitor – is setting the stage for an era in which people are armed with even more data about their health. 23andme doesn’t do full gene sequencing but its genotyping services already let people explore their DNA for just $99.

But as we move into this new bioinformation-filled future, it’s important to keep the skeptic’s voices in mind because gene sequencing doesn’t just have personal implications but public health consequences. One of Dr. Green’s most haunting concerns is the rise of “patients in waiting” who spend their lives in anxiety, undergoing unnecessary tests and potentially doing themselves more harm than good. But as others have noted, sequencing could take its toll on the health care system with unessential screenings and procedure, tax the patient-doctor relationship and lead to other biotethical questions.

Disclosure: True Ventures is an investor in Fitbit and the parent company of this blog, Giga Omni Media. Om Malik, founder of Giga Omni Media, is also a venture partner at True.