SHOULD YOU SEQUENCE YOUR GENOME? THINGS TO CONSIDER

CNBC pharma reporter Meg Tirrell just unlocked her genome. It's a controversial process that anyone can do, if they're willing to learn some intense things about their health. Here's what you should know if you're considering it. Read about the business and Meg's personal story here http://cnb.cx/1U6Ul60 and here http://cnb.cx/1XYHSHf
  1. The Players
    Meg went through the process twice. Once through the "Understand Your Genome" program at Illumina and once through tech company 23andMe. There are many players in the industry, including Life Technologies and Roche, that both make sequencing equipment. Other consumer facing services include Human Longevity (founded by J. Craig Venter) and Arivale.
  2. Cost
    The range is enormous. 23andMe costs $199 and Illumina is $2,900. Human Longevity can cost up to $25,000.
  3. What you could learn about yourself
    You can learn everything from a predisposition to a serious disease, to a lesser condition like lactose intolerance (as Meg did). Diseases that can be detected include cancer, heart disease, rare maladies. You can discover things like how your body interacts with certain drugs, how you process caffeine, if you flush from alcohol, if your muscles are geared towards sprinting or marathon running. The fear for some is learning something you can't do anything about, like early onset Alzheimer's.
  4. What you could learn about your children (current or future)
    If you have a recessive variant of a gene it might not affect you at all, but it could impact your children. If your partner also has the gene, your chances of potentially passing it along are increased. Common examples of this are Cystic Fibrosis and Sickle Cell Disease.
  5. Insurance
    If you have a medical reason to be sequenced your insurance may cover it. If you're doing it for curiosity, it's unlikely you would be covered. This country needs a lot more clarity on reimbursement before sequencing becomes widespread. A medical reason to be sequenced could include cancer - some have their tumors sequenced to learn how to fight them. Some patients with very rare diseases do it to try and find a cure when all else fails.
  6. Privacy
    There ARE federal protections in place from your employer and your health insurer from using your medical information against you. There ARE NOT any protections in place for things like life insurance. While they aren't using this information yet, there's no guarantee that they wont in the future.
  7. Do you want to know?
    If you have your genome decoded, be prepared for ambiguity and maybe not a whole lot of useful information. Only about 1-2% get information back they can directly act upon. The risk of finding something out that's really serious that you don't already know about from symptoms or family history is also very low. But is there a chance? Yes. So if you're doing this willingly, be prepared for any type of result.
  8. Is it worth it?
    That's a totally personal decision. And even for the medical community, the jury is still out. But many believe that within a decade this could be a routine part of medicine.