14 responses to “Direct-to-Consumer genetic testing: What it means for the general practitioner”

  1. Still too esoteric a topic to affect my practice but the potential is there several years from now hopefully when I have already retired.

  2. I a totally against DTC genetics as I don’t know what I’m getting into

  3. interesting and well written this makes total sense to me that this is not usually medically actionable

  4. nice article, i think we should be more careful with genetic testing though it makes tantalizing reading since it may turn out more questions than we can attempt to answer.

  5. Interesting article that brings up important guideline principles and insight into DTC genome testing.

  6. interesting information to assist FDr with questions around DTC genome testing

  7. I think it is definite something that will be evolving over time. The application is still limited so we have to use this wisely. The cost is coming back and picking credible company is important.

  8. I am about to retire so will leave this to the next generation

  9. As a radiologist , I had no idea this service was even in existence.

  10. Interesting, but for now will unlikely change my practise

  11. dtc has no place in actionable medical practice for now. 3 generations testing,specific disease and the qualification of the interpreter is important.

  12. dtc offers no actionable medical practice for now. 3 generations testing target a disease and quality of the interpreter is important

  13. Why I, as a patient, was forced to go the Direct to Consumer route:

    For 26 years i had been looking for answers here in Canada. I trusted doctors greatly, expecting them to give me the right answer. Unfortunately my trust was shattered as time – and negative experiences happened. I went through many episodes of being given medicines that severely negatively affected my life. At first i could handle many kinds of medicines. But while i was in College an Endocrinologyst gave me a medicine that did great damage to me. Even though within 2 hrs or so of taking that medicine drastic things started happening, 3 doctors (including the Endocrinologyst) persuaded me that my symptoms were not in the pharmaceutical info, that i had to take it 6 months in order to see positive results. During that time people at the College, at Church etc. were noticing drastic negative changes in me. A few years later, when i was trying to make sense of what had happened, i found out that the medical side effect info in the pharmaceutical book was based on males taking that medicine. No info had been available for females. The doctors were making decisions about me based on that info. The more time went, the more i noticed that medicines i could easily handle before taking that medicine, i could no longer tolerate. It was through much time and taking much medicines that i came to see this.
    There were times i bled much (for a month and a half etc.) and a doctor told me to stop a medicine. I never was checked for any bleeding disorders. There were times when hormone reacted severely to me. Horrible things happened. No doctor knew the answers why. Through time i was sent to many specialists, tried many, many types of medicines. Side effects such as hand eye coordination problems, vision problems, muscle spasms, blood pressure going way over 200 systolic and even to 149 diastolic, etc. etc. happened.

    Things were getting so desperate that i took course like Health Psych, Bio Psych etc. to navigate this medical crisis better. I am very thankful that i did, because i learned how to research, how to better navigate the doctor patient relationship, in these hard situations etc.
    I was made aware that American medical research was much more advanced than the Canadian system re. my own health areas.
    There were times i even came to the point of wanting to end my life because of this whole frustrating experience. I desperately wanted answers/medicines that were helping my body, but no answers were coming. Also, at this time many members of my family were going through similar situations. They were in a worse situation because their GP was not sending them to appropriate medical specialists.

    Through a friend i came in touch with a GP who had opted out of the medical system and practicing alternative medicine. He initially sent my blood to US for a genetic test re. liver. Results of that test showed that i did not have enzyme to break some of that medicine i had been given. My own doctors here in Canada did not pay much attention (because it was a direct to consumer test). That was in 2008. If they had paid attention, it would have given answers in one area.
    More time went, and my health was now severely going downhill. I went to a doctor who told me that all of my reactions (and even my liver being enlarged, hormone depletion,etc.) was psycho somatic. I told him that i was going to prove him wrong. That is when i researched and found something called Exome genetic test available in the US.

    What are the positives that have happened since taking that test? 1) One genetic place found out that we are carriers of hemophelia. This is helping one of my sisters who had a bleeding problem since she was a teen. Because of where she was bleeding, her GP never sent her to the blood specialist. It has been years where she was given various medicines for peripheral symptoms and had severe reactions, but not deal with the cause. Now she will get the proper diagnosis.
    2) That test i took in 2008 was confirmed by the Exome. I could have had better answers in 2008 if i had been referred to the Provincial medical genetic program or some other place. I NEVER COULD HAVE GOT TO ANY GENETIC PROGRAM in Canada because no doctor recognized that there was anything of that nature going on. And no Specialist ever mentioned any Provincial Genetic Program.

    3)Now there is the possibility of my whole family getting help. Before no doctor was really hearing any of my family members…..even though we were mentioning the same kind of symptoms, the same kind of side effects etc. Some of my family members had the same GP. I did not. But i did convey information about my family to the doctors. FINALLY our situation is taken a look at.

    4) Some of my family members are at precarious health situations. There was no hope whatsoever before. Now there is some hope – esp. because of everyone’s situation being studied by one team of genetic investigators.

    5) My GP, medical specialists, etc are finally taking our family situation seriously. We are getting better medical care. No longer are we being disbelieved cos there is more evidence through that Exome (diagnostic) that we are having medical situations that our doctors had not looked at before.

    The way the Canadian medical system is (with its horrendous shortcomings when it comes to diagnosing and treating unusual medical situations), there is ample need for Direct To Consumer genetic testing.

    Even if per chance no medical answers come to me at this time ie. 2013 (given that genetic testing is much faster than the ability to get meaningful/necessary analysis), i still would have been somewhat happy knowing that i participated in cutting edge science, and that i donated my DNA for research. At least i did not decide to end my life (because of the unbearable nature of my health); instead i did something to get answers. And in the process i triggered more discussion about this topic in the medical community.

  14. How best to check for Leber’s hereditary optic neuropathy?

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