I have recently returned from an idyllic family holiday on a tropical island in Fiji. We has a lovely time (although it took me at least 5 days to wind down from a busy and sometimes stressful year) and naturally gravitated towards chatting to other families with young children, while we were there.
We met a few lovely couples with kids…and each of the young families had medical conditions which made my heart sore to hear of. One father had Multiple Sclerosis and the baby of another family had Cystic Fibrosis. As a mother of a disabled child, I did not belabour any points with these folks or offer advice as they seemed reconciled to these conditions and happy to be on holidays relaxing.
However, the third family we met had a story that made me very angry. The young father got speaking to my husband about a ‘diagnosis’ he had received which purported to be a genetic mutation in the MTHFR gene. My husband dobbed me in as a medical researcher straight away (cheers!) and I was dragged off my sun lounger into the infinity pool to continue the discussion. It quickly became clear in conversation, that this man had chronic back pain and had resorted to alternative medicine after his GP had failed to take him seriously (and hence refer him to proper pain clinics in his local area).
He had been ‘referred’ to a naturopath from other CAM practitioner, who promptly used a cheek swab to get DNA for a genetic screening test. He had been told the results and that he had ‘compound hetero mutations’ in his MTHFR gene.
This gene encodes for the enzyme Methylenetetrahydrofolate reductase (MTHFR) which plays a central role in folate and homocysteine metabolism by catalyzing the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the primary circulatory form of folate. This precursor is then used in homocysteine remethylation to methionine.
I told him that I would do some research on the topic overnight (as the resort Wifi was better than my local fraudband at home) and get back to him with a better explanation of his ‘condition’ the next day. I also contacted the specialist chronic pain anaesthetist and my quack-busting drinking buddy @mickvagg for advice on this genetic test…as I was starting to suspect a pseudoscience wheeze, used to sell nutritional supplements. I also contacted @doc_andy_w for GWS pain clinic advice and @DrChromo for the clinical genetics angle. I love my tweeps! They are always happy to help out!
Mick’s response and the results of my research here and here confirmed my fears…that tests for common SNP polymorphism variants were being used to sell supplements to this man. He admitted to taking a ridiculous amount of such he had been ‘prescribed’ by the naturopath. He also reported that his chronic pain problems had not resolved as a result of ‘treatment’
I made these notes for him, which I sent via email:
Just some notes I made from my online research after speaking to you about MTHFR gene polymorphisms.
Anti-Quackery article from a reliable source related to MTHFR gene polymorphisms.
Nocebo effect: http://en.m.wikipedia.org/wiki/Nocebo << in your case, you have been told by a non specialist (who's goal is to sell you nutritional supplements) that you have a genetic disorder that has been correlated with various illnesses. Correlation does not equal Causation in medical research. But the neurological effects of believing something is very wrong with you, can damage your health.
Sciencey MTHFR gene info: (PhD in genetics and Biochem helpful to fully understand this article. Not really lay-person friendly) http://www.ncbi.nlm.nih.gov/books/NBK6561/ << Points to note from this book chapter: Only 50 people ever have been diagnosed with the 'true' mutation which knocks out the enzyme completely. Most people with the more mild mutations have 2 copies which work at some level (just not quite as fabulous as those without these mild mutations).
Genetic counselling services NSW: http://www.genetics.edu.au/Genetics-Services/genetic-counselling-services << These guys will be able to explain the whole thing very well (and test you properly & will not try to sell you anything) but it may take a while to get in to see them, as they tend to deal with kids with life threatening illness like Cystic Fibrosis. You will also have to ask your GP for a referral to these kinds of clinics.
Westmead Hospital pain clinic contact info: http://www.wslhd.health.nsw.gov.au/Back-to-Life—Pain-Management-Program/Contact-Information
Westmead Hospital Pain Clinic referral online form (get your GP to fill it out during an appt) http://www.wslhd.health.nsw.gov.au/Back-to-Life—Pain-Management-Program/Referral <<It is possible to self refer to this clinic, but it would look better coming from your GP
My incandescent rage stemmed from the fact this man was worried he had a genetic condition that he had passed onto his two gorgeous children. None of the implications of having a genetic ‘condition’ had been explained to him by a qualified genetic counsellor, he had just been baldly told the results, sold some supplements and left to Dr Google for advice (which when I checked, was heavy on convincing looking US based quacks and light on any real info on this ‘condition’…probably as the reduced functioning of the enzyme leading to raised plasma levels of homocysteine, had been associated with several common diseases but no causal links had been firmly established….as I checked PubMed on the topic too!)
The man was profusely grateful that I had taken the time to check this out on my holiday and sheepishly admitted to being angry at himself for being taken for a chump (he was a salesman by profession).
I explained to him that even if he has a pair of mutations in his MTHFR gene that are deleterious…that due to basic gamete haploid genetics, he had NOT passed on the condition to his children…and the only way they would currently have it, was if his wife also carried similar mutations on the same gene in BOTH of her copies (or they had already suffered De novo mutations in the same gene). I also said the chances of either of these being the case were fairly slim, but if he was still worried, the Clinical Genetics Service at his local teaching hospital would be able to test the entire family and also explain what is currently known in the medical literature about the SNPs for MTHFR and any health implications (from an unbiased perspective…as opposed to a CAM business plan angle).
He wrote to me soon after we had returned to Australia to tell me he had already been to his GP to demand the referrals I had recommended he ask for, for his on going pain condition and to the local Clinical Genetic Service.