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Summary:

As genome sequencing drops to a price that’s palatable for more consumers, two doctors debate whether those without medical conditions should do it.

DNA
photo: Mopic

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.

  1. Another set of very real concerns exist.

    1. What happens to individuals’ genetic material and sequencing when the private company goes belly up, or when the government demands (or changes the law to allow/compel) disclosure of the information? Today’s promises are worthless when the data is “in the cloud” ..in another country where privacy laws are different or don’t exist.

    2. Insurance companies and potential employers already make judgments about who they’ll take on as a risk, and have already disqualified people because their gene sequence indicates they MIGHT develop a particular health problem. There are no controls to prevent against genetic discrimination and ethicists continue to debate (read: talk sense to) the issues with legislators, bureaucrats and technologists are debating to protect their own positions and income streams.

    I’d be more afraid of those than I would knowing what my future might hold. At least I have control over me. The rest of them are self-interested and do not represent my interests or those of any individuals.

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    1. The Secret Lefty Tuesday, April 16, 2013

      1. The government collected your DNA at birth in the hospital. If they haven’t already, they can sequence your gene at any time.

      2. Your genetics do not determine your potential, but your environment does. How so? In a society that elevates sports players, but doesn’t elevate creativity, the sports player is more likely to succeed even if he/she possesses low creativity (IQ). You may be prone to to Alzheimer’s, but if you stay away from the “cause”, you have nothing to worry about. Illnesses don’t miraculously appear like a ticking timebomb, they are triggered. That identified trait would be classified as a weakness, which knowing your weaknesses will help you and/or give you an edge if you are competitive. Some of your other identified traits would be classified as strengths, such as high spatial reasoning, which counterbalances what some may perceive as a *flaw*.

      No one is perfect, which for a society to reach its highest potentially it must be diverse with everyone focusing on what they love. Doing what you love translates into exceedingly high productivity, as well as immense innovation if it just so happens you are innately good at it.

      Don’t let the Eugenicists get you down. They are imbeciles and should start by purging themselves from the gene pool.

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  2. Yes. Of course. Family genome sequencing would enable tracking diseases across space and time.

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