Clinical genetics

I was attached to the clinical genetics department for three weeks before the Christmas holiday. The department deals with genetic referrals for the north west of England. I sensed that it was rather academic and research based. I have never been in one department with so many professors before.

I enjoyed the non-medical side of things more than the medical. Contrary to my expectations, there were quite a lot of 'touchy-feely' issues to think about. We human always long to know the future. Advances in genetic testing have now paved the way to knowing the future. Little do we naive human realize that sometimes knowing (or even given the choice of knowing) is so much more tormenting than not knowing.

For example: for a couple has a child who has Duchenne muscular dystrophy (DMD) and have cared for and watched him wheelchair bound by the age of 10, prenatal testing seems to be the logical option for any subsequent pregnancies. But what if the next baby in the womb has the disease? They have brought up the elder son despite his ill health, so is it fair to kill off their unborn child without giving it a chance to be born? If they keep the pregnancy and currently with no cure for DMD, can you imagine life for the parents and the child at the younger age before the disease starts to appear, playing the waiting game?

This is only a simple case of genetic condition with complete penetrance. (I.e. if you are tested positive = you will get the disease at some point). What about those tests that cannot predict a disease with certainty? If you have four family members who died from bowel cancer, and you have been tested positive for a gene that increases your chance of getting the bowel cancer (but you won't necessarily get it 100%), would you take a gamble and get on with life as usual? Or would you play it safe by mean of a major operation to remove your bowel and live with a stoma for the rest of your life?

Perhaps I have not described it eloquently enough for you to gauge the complexity. Medical student would have come across these issues in the course. Yet honestly, informing real people their fate and then leaving them with life and death choices to make did stir my emotions up a little more than the books and the lectures. There are guiding principals but there is never right or wrong answer in these dilemmas. Another thing I like about genetics is that every patient or family is treated so individually. The typical appointment is 45 minutes personalized consultation, giving long enough time for the professionals and the patients to talk through any issues. Every patient is allocated to a genetic counsellor whom they can contact anytime. The doctors and counsellors often know the patients really well as a result.

Clinical genetic is entirely outpatient based, with very decent working hours. Other than taking blood pressure, drawing the odd family trees and playing with the children, there was really nothing else hands on to do. Many of the referrals included odd looking children with some physical or learning disabilities seeking for a diagnosis. I sometimes wonder if they are necessary. I have worked with disabled children and adults before and there must be loads of them out there with these odd looks without a specific label, and they still live a normal life. Is it that important to 'find' the microdeletion or tranlocation or subtle mutation responsible for the child's short statue+small head+slanted eyes+curly hair+delayed speech development, when the most important thing is to get the best support for the child to grow up as normally as possible? These syndromic diagnoses often have no cure or treatment for these syndromes anyway. I understand that sometimes a disease label can help the patient and the family cope better, and sometimes to advise on future pregnancies. But if the syndrome is not too severe, what difference does it make whether the cause is found or not? I do think that geneticists are sometimes carried away by their own curiosities and try too hard to pin down syndromes to genetic causes. We are all different because of our different genetic make up, and all of us have faults in our gene, that’s why none of us are perfect. While these odd looking, slightly disabled children might have more and worse faults in their genes than us, it is still what make them unique in the same way they make each of us uniquely special.

I finished the attachment feeling that I haven’t learnt much. However in hindsight, I have seen a few more prevalent rare conditions like Marfan’s, NF1, CMT. And as you can tell from this blog entry, it has been a very thought provoking experience overall. Would I become a geneticist? I don't think so - endless thinking and I would get too many headaches.


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