My Advice on Genetic Testing, for What It’s Worth

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by Annie Dixon |

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A few weeks ago, I received a question about a column in which I mentioned genetic testing. A woman with atypical hemolytic uremic syndrome (aHUS) asked for my advice about whether she should encourage her family members to get tested for the genetic marker.

Suddenly, I was promoted from stream of consciousness columnist to the “Dear Abby” of our rare disease community. I felt completely unqualified for the position. But then I realized nobody really asks for advice – in a column or in real life – intending simply to take it. What we all are asking for when seeking advice is camaraderie in sorting through the questions so we can arrive at our own personal answers.

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I am overqualified to offer lots of questions about living with aHUS. Just ask my husband’s doctors. For almost six years I have accompanied him to every appointment, notebook in hand for the interrogations, seeking the latest information and guidance.

So, the following is my version of an advice column, focused on questions rather than answers.

Dear Annie

Dear Annie,

I was diagnosed with aHUS three to four years ago. Would it be beneficial for close family members to have testing, i.e. DNA markers? My daughter, grandchildren, etc.

– Wondering in Cyberspace

The simple questions

Dear Wondering,

This is a great question, because the perspective is clear. We all know this is not going to cure or prevent the disease for anyone in the family at this point. But maybe there is some benefit to having this information, either now or in the future. So, let’s think this through together.

Would it benefit the family members if the results are negative? Since this is a rare disease, they probably will be. Does that provide you and them with a sense of relief? But are you aware that not all aHUS patients have the genetic marker?

Can their family doctor order the test, or do they need to see a specialist? What does it cost and is it covered by insurance?

What if the results are positive? Does medical science offer them any options to prevent the onset of the disease? Will this help them avoid possible triggers of an episode? Can they be monitored, and would they want to be? Would they follow the doctor’s advice? Will knowing the symptoms of a first episode help them seek early treatment?

The bigger questions

Would this genetic information be beneficial to people beyond your current family members? Are any of them in their childbearing years? How might this affect their plans to have children? Since pregnancy is a possible trigger for aHUS, is this something to consider? Can amniocentesis test for this disease in the womb? What could be the benefit of that?

Can you contribute to medical research through genetic testing? Does that bring purpose to your situation? Would it make you or your family members eligible for clinical trials? What sort of database does your genetic information get entered in? Who has access to it, now or in the future?

No easy answers

I have plenty of questions and no easy answers. But I believe that asking the tough questions is how we arrive at the answers that we can comfortably live with. My advice is to focus on the options that might result in actionable information. Test results that don’t assure or empower patients or their families are just busywork and scientific trivia.

As for Dear Abby’s column and mine, remember — you get what you pay for, and our advice is free. So, I would advise anyone who is “wondering in cyberspace” to take my questions to their family and to their doctors, where they may get some truly thoughtful and informed answers.

***

Note: aHUS News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of aHUS News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to aHUS.

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