“Dawn of Genomic Medicine”

According to the headline of a Yahoo News article, “the dawning of the age of genomic medicine” is upon us. There has been little impact of genomics but “that is finally changing,” says Julie Steenhuysen, the author of the article.

I was curious how this would be argued. Here’s how:

Sambrookes had been very athletic as a young teen, but as she matured, she noticed a heaviness in her legs. By age 20, running left her tired. At 40, she needed a pacemaker, just like her mother did at that age.

“I started thinking there is something to this,” said Sambrookes, now 56, who lives in Michigan City, Indiana.

After some dead ends, she found McNally, who cast a wide net, testing for more than two dozen genes that could account for Sambrookes’ heart and muscle problems.

The culprit turned out to be a mutation in a gene called Lamin that causes Limb-girdle muscular dystrophy. The disease can cause weakness and wasting of the muscles between the shoulders and knees. The mutation can also cause electrical disturbances of the heart.

McNally recommended Sambrookes replace her pacemaker with an implantable cardiac defibrillator that could protect against sudden cardiac death.

That proved to be the right call. Last August, Sambrookes’ heart stopped three times. Each time, the defibrillator shocked her back to life.

“She literally tried to die three times,” McNally recalls of her patient. “It still takes my breath away.”

Because someone recommended a pacemaker be replaced with a defibrillator, genomic medicine is a good idea. The benefits of genomic medicine must remain elusive if you have to use such a poor example to support it.

14 Replies to ““Dawn of Genomic Medicine””

  1. The forums on 23&me led me to realize that I had a poor ability to process sulfur. It seems like ‘genomic medicine’ is all about making a pill or medical process, but the benefits seem to come from sharing experiences. 23&me tries to discover things by survey, but like most surveys, there are often questions that I can’t answer correctly because they’ve got multiple choice answers that don’t quite apply.

    1. “The forums on 23&me led me to realize that I had a poor ability to process sulfur.”

      What happened next? Did you stop eating sulfur-containing foods? If so did anything change?

  2. What the lady had in common with her mother was that she probably grew up eating the same kinds of foods as her mother, and that they were both going to Medical Doctors who were on commission. Neither one probably tried changing their diet or pursuing natural cures. Chances are it had nothing wjatsoever to do with genetics.

    Genetics is nothing more than modern day voodoo, and a new scam to milk money out of unsuspecting gullible moroins who will put their health into the hands of modern witch doctors who only know how to prescribe poisons, un-needed tests, dangerous surgeries and dangerous radiation and other procedures.

  3. This just shows that the advances are being pushed by those of us interested enough to look for genetic answers. She states she found someone to test and help her “after some dead ends” – she actively pursued answers! For those of us willing to look hard there are emerging answers in our genetics at places like 23 and Me. I have been dismissed by doctors saying it isn’t proven science yet but there is lots of information there if you are willing to dig – and a lot backed by research studies that have not become mainstream yet

  4. I’m confused about the defib vs. pacemaker distinction.

    They say the new defib saved her life on three occasions, but they leave hanging in the air whether the pacemaker had been doing the same thing in a prophylactic manner all along.

    It’s like saying a parachute saved your life three times, but your old way of making sure the aircraft had enough reserve fuel to reach its destination in event of a stiff headwind didn’t accomplish anything.

    I can appreciate there might be additional advantages to the defib, but saying it saved your life vs. a pacemaker isn’t necessarily one of them.

    I hate reporters. Are they really that logically challenged, or do they think the rest of us are idiots?

    1. “I hate reporters. Are they really that logically challenged, or do they think the rest of us are idiots?”

      I think they have a job that, like almost all jobs, requires steady output. The fewer questions you ask the faster you can finish the piece. So long as the result is not obviously idiotic, they are okay. There is a tradition in science/health reporting of giving authorities a free pass — allowing them to say anything, no matter how self-serving, without criticism.

      I do wonder if their critical faculties erode from disuse. If years of not being critical cause them to lose the ability to be critical.

  5. To me the whole point of knowing one’s genome is how to avoid turning potentially problematic genes on in the first place and if one has inadvertently turned them on how to turn them off. A drug or gadget isn’t going to fix anything.

  6. When I had my first cardiac arrest I fell on top of my bike and the mechanical shock restarted my heart. Pushing a bike around with you everywhere in life would be inconvenient I admit. And you are not likely to gain advantage from it in bed, for example.

    But sarcasm aside, I agree with Seth. You don’t half weaken a case by citing feeble evidence.

  7. Pacemakers and defibrillators are not the same thing – a pacemaker alone will not restart a heart that has stopped completely
    – they only adjust the pace of a hearts rhythm. Although I believe they now have combined units that can perform both functions but if you don’t have one of these types you don’t get both benefits

  8. I understand they are not the same thing. What I don’t understand, and what I’m asking is would her heart have likely stopped if it was connected to a pace maker.

    It’s suspiciously convenient (well, to my cynical mind anyway) that within weeks/months(?) of her switching from a pace maker to a defib, the defib starts firing away, saving her life three times.

    OK, it could happen, and that’s great if so, but it’s just kind of hanging there in the story. I think that’s called begging the question. No? Of course, I’m not a paid journalist. I could be wrong.

  9. I want to know what happened to Ma and Grandma. By implication they carried the gene. Did they suffer atrial fibrillation/cardiac arrests? Because if they did the recommendation to get an implanted defib would have been sensible without the genetic fol-de-rol.

  10. Good question about the relatives dearime, I agree the article seems incomplete. Also being saved by falling on your bike after cardiac arrest sounds like a one in a million type thing, you’re a very lucky guy!

    Allan they probably replaced the pacemaker with a defib that could also pace her heart – I have a friend whose defib (after firing several times) was upgraded to one that could also pace – as his heart gets weaker it keeps him in a more regular rhythm to spare the damaged heart muscle as much as possible.

  11. Initially I dropped anything I could associate with sulfur. I can handle some now, but I had overloaded my system. I started taking molybdenum, which is need for the enzyme. I notice beneficial effects immediately. I think anyone suffering I.B.S symptoms ought to consider sulfur may at least be a contributor to the problem.

    Seth: Thanks, that’s good to know. You mean these two events — (a) stopped sulfur and (b) started molybdenum — happened at the same time? What is “the enzyme”?

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