Inherited genetic conditions - should you find out?

[Ken Natton]

I wasn’t sure where to put this, I decided that really it could only go here in general discussion. Although the discussion involves matters of the human genome and the growing knowledge of it, the issue is not biological, it’s social. In any case…

So, there was a program broadcast here in the UK last night that raised some issues about which, before watching the program, I would have been very sure of my position. Now, I’m not so sure, though it remains difficult for me to let go of my previous thoughts. It was a documentary program and the guy who made the program was himself affected by the issue. His family have a history of breast cancer. It has been shown to be related to a particular mutation of the BRCA1 gene. He showed a photograph of 14 members of his family, from the generation before his. Seven of the people in the photograph were affected. Four had died of cancer and another three were actively under treatment for it. One of those was his mother who had died from it the year before the program was made. The issue for him, of course, was whether or not he had the mutation of the gene. Not only can men get breast cancer, the gene is also implicated in prostate cancer and, the further issue for him is, if he did have it, there was the risk that he had passed it on to his daughter. These days of course, you are not even dependant on your health service to find answers to questions like these, there are organisations that you can pay to carry out the tests and provide you with the answers. The issue was – does he want to know?

So, before watching the program my position definitely would have been, yes, of course he should know. That is not because I was in any way underestimating the impact of finding out that he did have the problem mutation, but it just seemed axiomatic that it is better to know than to not know. The longer the programme went on the more that certainty was undermined. He interviewed a woman whose mother was in the advanced stages of Huntington’s disease. It is caused by a genetic mutation. The woman herself has a fifty percent chance of having inherited it. She can find out if she wants to, but the knowledge would be useless. If she has the mutation there is nothing that can be done to prevent the inevitable consequence. If she finds out that she does not have it, clearly that would be important knowledge. If she finds out that she does have it, the knowledge is useless to her and yet blights her life right now.

I should mention that the program did reflect the other side of this technology. He talked to two separate couples who had genetic disorders, but who had been enabled by this technology to have children that they could be sure would not have the inherited condition. So, I am certainly not in any doubt about the value of the scientific research that has brought this technology about, nor about the importance of the research continuing. What I am interested in discussing is whether my earlier certainties that people should want to know about themselves and their own families was right, or whether the knowledge really is the Pandora’s box that this program made it seem. The program presenter eventually found out that he does not have the problem mutation of the BRCA1 gene, but that wasn’t the end of it. The same report that had investigated his DNA reflected that he was at increased of certain other conditions. As he put it, he had wanted the result to be basically – you’re fine, you’ll enjoy good health until you are a ripe old age. But that isn’t the reality for most of us. So he didn’t have the problem BRCA1 mutation. That doesn’t mean the future is all bright and rosy. If we all decide to get a report on our DNA, would that simply mean that we would all find out stuff that we were better off not knowing?

 

[S_Happens]

Who says we're better off not knowing and who says that because there is nothing to be done (such as in the case of Huntington's) that it is only a detriment to know?

Obviously it would depend on the person as to how they would be affected by the news either way. Some would be affected negatively (spiral into depression or self destructive behavior) and some would not (remain neutral or be empowered by a potential obstacle to overcome). In response to something such as Huntington's, I think knowing would help me to appreciate the time that I had rather than fill me with despair. Actually in any case I'd prefer to know, as I like to face things head on. I also recognize that this will not be the case for many others.

 

[wuliheron]

They say never watch how sausages are made but, of course, that might not matter to a vegetarian or someone raised on a farm. There is no one-size-fits-all answer to the question and the issue is how squeamish are you on the subject, do you ever plan to have kids, and how useful is the particular knowledge? If necessary you can have a physician look at your dna and only tell you about the things that are treatable.

 

[Ryan_m_b]

Forewarned is forearmed, if you discover that you are high risk of certain diseases then you can alter your habits to minimise this risk. It is ethical to encourage people to do this I believe.

Regarding cases such as Huntington's there are management techniques that can alleviate some of the symptoms. Whilst there may be arguments that X is incurable and untreatable so knowing X is just going to lower your quality of life through fear and stress I don't think it is a desirable to encourage people not to find out if they are at risk of anything.

 

[Galteeth]

Yes, it is good to know. Not only can you change your lifestyle choices but even for many incurable diseases, you can mitigate or delay symptoms with early treatment.

 

[Drakkith]

Even assuming an untreatable, unpreventable disease, one can plan for the possibility of developing it. Things like saving up for someone to take care of you, ensuring your legal affairs are in order (and not just in case of death), deciding who does what if you get sick, ETC.