Help! Need genetic test!

I don’t know where else to ask, so I’m going to ask here, where real doctors and doctors-to-be might give me guidance.


The prologue:


Before I take affirmative steps to apply to medical school, I need to get my house firmly in order. Top of that list: Get tested for a genetic disease my father has. If I have inherited the disease, I will start being symptomatic before finishing residency, and will likely be incapacitated before even paying off my student loans. In other words, if I “fail” the genetic test, I would be a fool to try med school.


The specifics:


My father suffers from spinocerebellar ataxia type 6. SCA-6 destroys (or at least incapacitates) cerebellar function, rendering its carriers progressively less able to speak and to coordinate fine motor functions, then gross motor functions, eventually confining the carrier to a wheelchair permanently with a speech impediment so severe that few outside of family can even understand him. The disease typically begins to manifest between the mid-40s and the early 60s. It tends to get worse (earlier onset) with each succeeding generation.


Of nine siblings, my father is apparently the only one to have inherited this from his own father – thank heavens. But that gives me about a 50% chance of having received it from him. Obviously, there are a lot of concerns here, not the least of which is: If I have it, have my children inherited it? But the primary concern wrt this group is that this is a deciding factor in medical school application. Obviously, it would be folly to spend my life and incur great debt training for medicine, only to be robbed of the ability to practice it shortly after becoming certified.


The problem:


I am not willing to have a positive diagnosis on my medical chart, where insurance companies could see it. My doctor said I could request that part of the chart be “sealed” or something like that, but I would have to renew it every year or else my insurance could read my chart and see the diagnosis. Obviously, this could affect my ability to get insurance and otherwise provide for my family.


But, in an amazing demonstration of the stupidity of the American* medical system, though I could walk freely into any number of clinics in the country and get tested for AIDS – a social scourge that destroys the lives of innocents – and still have my anonymity completely assured, I CANNOT GET TESTED FOR A PERSONAL, NON-COMMUNICABLE GENETIC DISEASE WITHOUT A DOCTOR’S ORDERS!!!


*This is not just an American problem. It appears that most or all foreign countries also require physician involvement.


So I have finally managed to procure an evaluation order for this genetic test from a friendly, sympathetic doctor. Problem: No lab will send the results to my home address! Even with the doctor’s order, they will only send the result to HIM! MY TEST RESULTS CANNOT BE SENT TO ME!!!


Disgusting.


My question:


Does anyone have any ideas to help me? I hold at this moment in my grubby little hands my doctor’s evaluation slip. Can anyone put me in contact with a lab that will do the test and send me the results?


If not, is there anyone who would be willing to help me to get this genetic test without the results being divulged to anyone else besides me? If the result is positive, I want no evidence the test was ever done. (If the result is negative, of course, I have no objection to it being in my chart. Heck, I might even try to get insurance reimbursement for the test, in that case.)


Thanks in advance for any help or advice.

What you are asking on a site dedicated to helping people become doctors is to violate the ethical and perhaps legal standards that they are striving to reach. While I understand your dilemma that you have shared in great detail and I am sure with much emotional turmoil, what you ask is inappropriate.


However, the budding private market of genetic testing labs are popping up all over the country. In fact, Walgreens, the huge pharmacy chain was about to start stocking genetic test kits on their shelves. It was stopped by FDA for concerns of how people could be advised of the findings. I would think that if you are willing to pay out of pocket, that one of these labs, or indeed a any private lab would do it.



Thanks for the quick reply, gonnif.

  • gonnif Said:
What you are asking on a site dedicated to helping people become doctors is to violate the ethical and perhaps legal standards that they are striving to reach.



Please believe me when I say in all seriousness that I neither expect nor want anyone to breach ethical or (especially) moral standards. Any doctor who feels s/he would be doing that in responding to me should definitely not respond.

However:

Legally, I would be surprised if there are any laws that forbid a person from learning his own genetic history. I would be equally surprised if there are laws that specify that only a medical doctor can lawfully order a genetic test -- in fact, I know that's false, since I can pick up a genetic test at Walgreen's. The only difference is that the Walgreen's test is for paternity, not SCA-6. It is likely to be years, maybe decades, before an SCA-6 test is freely available, which is too late to allow me to pursue medical school.

As for ethics: Is patient privacy unethical? Is self-knowledge unethical? Does any physician really believe that it would be unethical for spoxjox to find out if he has SCA-6 without making that information available to insurance corporations? I cannot believe any conscientious physician would hold any such opinion.

However, I could be wrong, as I have been before. Any such physician should certainly not respond to my plea, because again, in all seriousness, I have no desire at all to draw physicians into acting in an illegal or unethical manner.

  • gonnif Said:
While I understand your dilemma that you have shared in great detail and I am sure with much emotional turmoil, what you ask is inappropriate.



Without being combative, I ask as a true question: How is my request inappropriate? Is there really something illegal and/or unethical that I am asking? If so, I want to know. The last thing I want to do is ask a doctor (mine or someone else's) to violate ethics or laws. But I can see nothing inappropriate in my question.

  • gonnif Said:
However, the budding private market of genetic testing labs are popping up all over the country. In fact, Walgreens, the huge pharmacy chain was about to start stocking genetic test kits on their shelves. It was stopped by FDA for concerns of how people could be advised of the findings. I would think that if you are willing to pay out of pocket, that one of these labs, or indeed a any private lab would do it.



I thought you could buy those at Walgreen's. Maybe I'm mistaken. But in any case, the FDA's Big Brother playacting is disgusting and frightening, as if I'm not a big enough boy to understand and deal with my own genetic makeup.

Believe me, I have called around all over the nation to find a private lab willing and able to do the test. Any lab able to do the test is unwilling without sending it back to my doctor, and any lab willing to do the test doesn't offer it. (Mostly paternity-type testing.)
  • In reply to:
I am not willing to have a positive diagnosis on my medical chart, where insurance companies could see it. My doctor said I could request that part of the chart be "sealed" or something like that, but I would have to renew it every year or else my insurance could read my chart and see the diagnosis. Obviously, this could affect my ability to get insurance and otherwise provide for my family.



This is where the ethical/legal issues arise. You are asking a doctor to arrange a medical test yet not put the results into your record. That makes him/her liable on the general concept of a medical record but if he/she arranges this via insurance payment, could be have both financial and criminal penalties.

  • In reply to:
I thought you could buy those at Walgreen's. Maybe I'm mistaken. But in any case, the FDA's Big Brother playacting is disgusting and frightening, as if I'm not a big enough boy to understand and deal with my own genetic makeup.



This literally just happened today

Link To: (CNN) -- Walgreens has postponed its plans to sell personal genetic test kits after the Food and Drug Administration intervened.

So apparently the marketplace to provide information is moving much faster than the dialogue and standards of how this information should be used for most patients. You are not a typical patient but a well informed person on this condition


  • spoxjox Said:
...I would be equally surprised if there are laws that specify that only a medical doctor can lawfully order a genetic test...



I would too - Maury does it all the time! In fact only yesterday on his show there was a gal and nine guys who could be......
  • gonnif Said:
This is where the ethical/legal issues arise. You are asking a doctor to arrange a medical test yet not put the results into your record. That makes him/her liable on the general concept of a medical record but if he/she arranges this via insurance payment, could be have both financial and criminal penalties.



To be clear: I will pay for the test myself. I do not want any insurance involvement at all.

  • gonnif Said:
This literally just happened today

Link To: (CNN) -- Walgreens has postponed its plans to sell personal genetic test kits after the Food and Drug Administration intervened.

So apparently the marketplace to provide information is moving much faster than the dialogue and standards of how this information should be used for most patients. You are not a typical patient but a well informed person on this condition



Perhaps, but that still leaves two issues:

  1. Is the government now in the business of deciding whether people are smart enough to handle data about their own physical conditions? The very idea should be terrifying to anyone who values liberty.

  2. Why should I be denied access to otherwise non-privileged information just because other people might not know what to do with it? That's like saying I can't vote because too many people vote stupidly.


My complaints are not aimed at you, gonnif. Thanks again for the timely responses.
  • spoxjox Said:


Perhaps, but that still leaves two issues:

  1. Is the government now in the business of deciding whether people are smart enough to handle data about their own physical conditions? The very idea should be terrifying to anyone who values liberty.

  2. Why should I be denied access to otherwise non-privileged information just because other people might not know what to do with it? That's like saying I can't vote because too many people vote stupidly.


My complaints are not aimed at you, gonnif. Thanks again for the timely responses.



This issue is what exists now. Even now I cant get CAT or MRI results from the testing center without them first asking if I have spoken to the doctor about it. They won't release it to me before 48 hours. A practicing physician on site here would be better at explaining but doctors have to be careful of who is responsible for the patient.




I’m not certain, but I’d imagine that if a doctor orders a test for an individual, they are essentially agreeing to take on that individual’s care, at least in some way. Further, I’m sure there are direct responsibilities for the test itself; assume, for the sake of argument, that a physician secretly helps someone order test X, the results come back in a way the patient didn’t want, and the patient commits suicide or some such. But that’s tangential to our discussion here.


I saw that CNN article as well today, and it seems relevant. I’ll not begrudge the FDA their role in overseeing how medically-related tests are marketed and administered. This may have potential for you, though.


My only really novel contribution here is that I was under the impression that federal law prohibited insurance companies from discriminating based on the results of genetic tests. My recollection was that such a law had passed maybe ~2 years ago, prior to any discussion of the current healthcare reform. Looking into such legalities may be of some use to you.

  • pi1304 Said:
My only really novel contribution here is that I was under the impression that federal law prohibited insurance companies from discriminating based on the results of genetic tests. My recollection was that such a law had passed maybe ~2 years ago, prior to any discussion of the current healthcare reform. Looking into such legalities may be of some use to you.



This is a valid piece of information, and very useful -- if you really believe that a law will keep corporations from acting in what they perceive to be their own best interest.

If I can't even afford to get a lawyer to help me get a test that I have every moral and ethical right to have without exposing the results to others, how on earth can I afford to take to court a corporation that discriminates against me for genetic reasons? The solution is obvious: Get the test but don't tell anyone.

As for the suicide example, it is correct but (to me) specious. People commit suicide all the time, and doctors are not routinely help responsible for their decisions. Even if you think the point is valid, though, it begs the question: How does the government or the medical industry have any possible moral or ethical right to deny me a medical diagnosis without potentially exposing it to others? That's like saying I don't have the right to harvest food because someone or other might get injured harvesting food.

I think I have the test set up, all legal and ethical, with my confidentiality assured. All I need now is to find some way to get my blood drawn (two 5-ml samples). Any ideas?

  • pi1304 Said:
I saw that CNN article as well today, and it seems relevant. I'll not begrudge the FDA their role in overseeing how medically-related tests are marketed and administered. This may have potential for you, though.



On further reviewing the Walgreen's genetic testing kit case, I may have to agree with pi that it was not unjustified. If the company (Pathway Genomics) was claiming to give a test that would find if you have "markers" for cancer or whatever, that's not particularly good science and does indeed run the risk of misleading the public. The relationship between such "markers" and the disorder itself is not well-established, so at this point the tests give you nothing more than some ballpark statistics.

I still maintain it's utterly absurd that I can't get a simple genetic test for a disease that affects no one else outside my family without leaving a damning record or, at least, jumping through numerous hoops. It's like living in a third-world banana republic. I half expect any time now to be "asked" to pay off a local government official for the "continued security" of my test. Barf.

Just read the book “The Immortal Life of Henrietta Lacks” by Rebecca Skloot. There are all kinds of ethical and moral issues brought up as far as tissue sampling and genetic testing even. It’s all very strange.


Anyways, what is the benefit to you finding out this information? Can you take preventative measures to slow down the progress? Or is it for peace of mind?

  • Kimberly_h Said:
Anyways, what is the benefit to you finding out this information? Can you take preventative measures to slow down the progress? Or is it for peace of mind?



As I mentioned initially, I will not even consider going down the road of medical school if I have SCA-6. If I do not have it, then I can continue my preparation for applying to med school.

agreed

To re-ask my latest question: How can I get a blood draw so I can send it in for testing? It’s all legal and above-board, no deception or ethical questions. I just need the blood sample. Seems like a simple enough matter, but who can I get to draw the sample and hand it to me?

Just a thought … contact a local premicare or another small doc in the box place. It should be a simple request and the cost should be low.

Go to another country for your next holiday and get the test done while you’re there.

  • smileyperson Said:
Go to another country for your next holiday and get the test done while you're there.



From what I have been able to determine, other countries have even more stringent laws than the US, and little privacy protection. Whether that would make its way back to the US, I don't know. Maybe not. In any case, other than occasional visits to Canada, I leave the country about once a decade.

I travel overseas a lot, never specifically for ‘medical tourism’, but a few times I’ve needed medical or dental treatment. If I remember correctly, the countries where I’ve seen doctors are Kuwait, Mexico, France, Thailand, and Malaysia. None asked me to show any identification. I could have given a fake name and it wouldn’t have mattered. They just want proof of ability to pay.

OK so the original plea was to enlist the aid of a practicing physician in obtaining a test. Apparently that dilemma has been solved; I have no idea how to get blood drawn in the way described so I won’t offer any thoughts on that.


What I do want to say, as a practicing physician, is this: spoxjox, I understand and appreciate your frustration. It is clear that you have become well-educated about this condition and you have done a great deal of thinking about its impact on your life. It sounds terrifying and you are understandably feeling tremendous urgency to solve this dilemma in a way that is helpful for your future.


However, I will tell you that I encounter people on a regular basis who are very sure of their situation, very sure what will work for them based on their research or past experience, and very unwilling to accept that the doctor’s role of subject matter expert is why the doctor has to write the prescription or order the test, and then provide the follow-up for that test or prescription. In my office we privately refer to these people with a sardonic, “Would you like fries with that?” They have completely discounted the value of my expertise and all they want is my signature on a script. They do not want to acknowledge that my signature on that script represents my statement: “I know this patient. I am familiar with his condition. I have examined him. I believe that he needs this test/medication because of my clinical judgment and my diagnosis.”


You want to be a doctor - you want this test because you are trying to decide what to do towards that goal. So I would submit to you that, along with pursuing this test, you learn more about why doctors feel very responsible for any test ordered for anyone, how we feel responsible for ensuring that the interpretation of the test is appropriately communicated, and why we are not keen on simply handing information over to people no matter how much they may state that they can handle it or how sure they are that they can understand it. I have had Ph.D. biologists who had completely wrong ideas about tests that I was ordering for them. They’re well-educated, but they are not physicians.


There is a reason that I went through four years of medical school and three years of residency. People who come to me benefit from those years of learning and the years of practice since. The people who want to be their own doctors, who prompt me to think “do you want fries with that?” are short-changing themselves and giving me no credit whatsoever for the expertise that I have developed.


I wish you success and hope that you get the good news you are so ardently seeking.


Mary Renard, M.D.