I am a female primary care physician and as such, about 80% of my patients are females. Since breast cancer has (sadly) become a relatively common diagnosis, I have helped many women during their cancer treatments. I believe in my patients' autonomy and support their efforts to understand their condition and its treatments. I encourage them to advocate for themselves as they negotiate the complexities of the medical system and help them when they desire me to do so.
The implications of a positive BRCA1 or BRCA2 mutation are enormous, particularly for a young woman in her childbearing years, given the astronomically high risk of ovarian cancer these mutations confer. I always refer patients at risk for genetic conditions to a specialist so that they receive genetic counseling as part of the testing process. I don't do this because of a desire to strip my patients of their autonomy, or because I think that "a doctor knows best". I do it because it is good medical care. I believe that my patients deserve to have genetic testing results delivered by a professional with the training and skill to do so in a manner that is not only informational, but also emotionally supportive.
I believe in the power of a strong patient-doctor relationship. Home genetic testing may help to build this relationship but it may also lead to people receiving potentially devastating medical news in isolation, and without the resources to help them moving forward.
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This is all about data mining. The same is true for DNA-related products such as Ancestry. While there may be some initial profit in selling the tests themselves, the big money comes from selling the information to large databases where it is, or eventually will be, accessible to insurance companies, employers, financial institutions or any other corporate or government entity that wants to use it.
As a doctor or mine once said: "They want to get all of your information so they can use it against you."
As for breast cancer genes, the vast majority of breast cancers are not associated with BRCA1 or BRCA2 mutations. The medical community has discovered these mutations and now promote them as the Holy Grail. They are not. They are merely the first of many gene mutations that will be discovered as causing breast cancer. To tell patients that they are "safe" from all forms of breast cancer if they do not have BRCA1 or BRCA2 is misleading and dangerous.
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Remember when doctors thought women should only have pregnancy tests done in a doctor's office? Remember when they thought only a doctor should tell a woman the results of her pregnancy test?
We don't need nannies.
I put myself through college, carried and gave birth to 2 healthy children without harming them, raised them, qualified for multiple mortgages, etc.
I don't need "special controls" to learn about my own genetics. If I am paying, I should be able to get any information I ask for about myself.
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NYT photo for this article is misleading. 23andMe testing does not require physical mutilation or even getting your kit off (as pictured). I found it helpful to first have results of the DNA test interpreted by a geneticist, and Not by an MD wanting to sell more testing, or procedures and surgery.
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For readers and commenters worried about the privacy of their genetic testing results - don't. 23andMe does not keep it private. Knowing that, I enrolled because I believe the more genetic information available to medical researchers, the better. 23andMe has many surveys that a client can volunteer to take, the results from which may go a long way toward making health care more robust and less expensive. Plus, the results are interesting! I have verified that some things typically considered behaviors turn out to be genetic pre-dispositions.
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Excuse me -- ever heard of Rachel Dolezal? She claimed minority status to get affirmative action benefits.
The reverse can be true, if medical problems become known to prospective employers. Who thinks an employer, given a choice between an average-insured cost worker and a high-insured cost worker, would pick the latter?
Seriously?
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While working for a Fortune 500 company I recruited a young man who appeared to be an excellent candidate for employment. He volunteered that he was a Type I diabetic (this was related to very relevant work that he had done and reported on). His condition was known to all management in the hiring department as well as to H.R. The company hired him and he has been contributing now for 20+ years.
Of course, this doesn't prove that all companies will hire people with known medical issues, but it shows that qualified individuals will be hired by ethical companies without regard to their genetic predispositions.
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Note to editor: this is not “home testing”; it is “home sampling”. The former would be a pregnancy test, or maybe a blood glucose measurement. With the subject testing, you are spitting into a tube and mailing it away.
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"Body iron store as a predictor of oxidative DNA damage in healthy men and women."
The lay public should be entitled to know information revealed by voluntarily having their own body fluids tested, whether it is genetic or infectious, especially when it could impact their health and longevity. However, a lot of this information requires interpretation in the context of age, gender, lifestyle, education and other genetic factors. Otherwise, it is likely to be acted upon inappropriately.
Learning about your genetic mutations? Take a course in medical genetics, or see your doctor, or better yet, see a genetics counselor at a major medical center.
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I don't need a babysitter to interpret my data for me.
I didn't need a doctor to hold my hand and reveal the results of a pregnancy test to me (surely a life-changing diagnosis if there ever was one).
I took an at-home pregnancy test and---shocker---managed just fine. 23 years later, that baby is about to graduate from college and is headed to a great job.
I will decide what is and is not an appropriate action in my life.
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The problem with giving a private company your DNA is you don't know where that information will end up. Can they re-sell that data to insurance companies? How directly can your DNA results be connected to you, and what would that mean if insurers got access to it?
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the people advising against self order test, do they have proof that the money saved is too small to justify the number missed or denied issues. This is a constant issue with vaccines; is the number of lives saved, at the expense of lives lost to adverse reaction justified.
That is absolutely bizarre. A VAX prevents problems, immediately. Genetic test info, poured into databases, can brand an individual high-cost insured, for a lifetime. They are absolutely different.
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That’s too many surprises all at once.
I had my insurance-covered BRCA genetic testing done at a medical center genetics program because I qualified for the test (having two Ashkenazi parents and breast cancer in one line of my family). It was negative (as was my Askenazi qualifying Parkinson's genetic testing that I got through the Michael J Fox Foundation/Indiana University Medical School).
Any woman (or man) who has good health insurance, is at least some recent part Ashkenazi and has any family history of breast cancer should find out first if they qualify for real lab testing for free before plunking down the money on this commercial service.
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It’s a misconception to say you can get the test “for free”. Insurance coverage is not free, it means it’s being paid by premiums and someone is profiting. In addition, it’s likely to be in the thousands vs less than 200 dollars. The tests are all commercial. It’s how much and who pays that is different. Health care has no transparency. As an oncologist, trust me, this is how the system works.
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The Michael J Fox Foundation testing was free and not through my insurance.
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Depends on who is doing the test.
Myriad is a rip-off
GeneDx, Ambry, Fulgent all are under $1000 for a multi gene hereditary cancer test.
I used my DNA from 23andMe and exported it to promethese - where i learned that i carry a gene for colon cancer that suggests colonoscopies starting at age 35. I'm now 45 and will be getting my first one next week. It's a perfect example that being able to affording the test result could potentially save my life. I have no family history of colon cancer and am 1/2 Ashkenazi Jew...and this is another one of my maternal tribe's recessive 'bad genes'.
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Did you get your result confirmed in a clinical lab? It is important to do that as false positives have been reported. The raw data from 23andMe is not analyzed with the same rigor as sequencing done in a clinical lab. It's important to confirm before making medical decisions.
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NYTimes editors, repeating this for the 5th time -- how good is the data-security, in these companies? What about data breaches? Equifax, anyone?
My nephew, age 21, has Type I diabetes, discovered when he applied to a U.S. military academy. That made him ineligible for the academy. Now, his parents' concern is, when he applies to brand-name employers, might that negatively affect his employability? Yes, there may be a zillion laws involved .. bottom line, he will be more costly to insure, for an employer.
When it comes to data security -- caveat emptor.
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I couldn’t help but reply to your comment about ‘bad genes.’ It’s more complicated than that. Some ‘bad genes’ actually confer a survivor benefit on the beholder. This is not to trivialize the devastating effects some genes can have. I’m just stepping back and seeing genes impacts as they interact with the world around them and determine the phenotype of today’s humankind.
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Most of us are at risk for something. Genetic risk is not destiny and the best outcome is that you pay more attention and improve your lifestyle choices. Reading your own genetic code is very self-referential, it takes time to comprehend the implications and the magnitude or lack of magnitude of what you are reading in your genes. We all start as illiterate in life. We all will need time to become literate in reading the human genome. We are in the early stages of the genome reformation. Yes, learn from those who have studied genetics more, but do not let them exclude you from reading your own genome directly.
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Genetic risk is indeed generally not destiny but is for the genes for Huntington's disease and Marfan's syndrome; if you have the a single (dominant) copy gene you WILL get the disease. Having either the BRAC1 or BRAC 2 gene mutation carries a lifetime risk of getting breast cancer of 80% as opposed to the general risk of 12%. Cancers associated with with these gene mutations also tend to occur at younger ages, be more aggressive and more deadly. Not destin,y but closer to it than anyone would like themselves or a loved one to be.
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While lifestyle is certainly important there are mutations that pose danger no matter what your choices may be. Testing by a recognized lab, and periodic updates are critical, particularly if there is a strong family history. Information gives power. Knowing risk can motivate some of the lifestyle adjustments and monitoring that saves lives.
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The medical profession can help prevent unnecessary treatments and procedures. Before a surgeon does prophylactic surgeries, she ought to verify the source of the genetic information and, if necessary get further tests. Ditto for any doc offering treatments. Patients must also be helped to understand that genes are not always destiny. Even with odds against them, some patients will not develop a cancer. An 80% chance means that 20% will not develop the disease. I'm not against preventative treatments, but care must be taken and all the facts understood.
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I tested positive for BRCA2 gene mutation this winter, via Myriad genetic testing. It was very expensive but my insurance did pay for it. As far as my parents know, there’s no Ashkenazi Jewish in my family history but these results lead me to believe there may be, and I’d like to find out.
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Your comment is why counseling from a Certified Genetic Counselor is important in interpreting clinical genomics information.
Having a pathogenic BRCA mutation is not an indicator of Ashkenazi heritage, rather persons of Ashkenazi heritage are more likely to have a pathogenic BRCA mutation.
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I also tested posiive for BRCA2. BRCA1 is associated with Ashkenazi background; but BRCA2 isn't. According to Susan Komen Foundation, BRCA2 has a prevalence of 1% among the Ashkenazi; but 3% among African Americans and 2% among white, non-Ashkenazis.
Also, watch for pancreatic cancer and melanoma with BRCA2. Higher risk there also.
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