Friday, February 16, 2018

Genetic testing and the confused IVF specialist

Genetics plays an important part in reproductive medicine , and it's well known that the commonest reason for failed implantation is a genetic defect in the embryo . This is why it's very tempting to tell patients who have failed an IVF cycle to undergo genetic tests , and this issomething which IVF doctors do all the time . Sadly, most of them are pretty clueless about reproductive genetics , and they order all kinds of unnecessary tests , which they don't know how to interpret . Not only are these tests very expensive , they are completely unhelpful, because they don't really change the patient's treatment options. And because the doctor is confused , he ends up confusing the poor patient even more  !

The diagnostic equipment is expensive, and the genetic laboratories are happy to market these tests to IVF specialists, so they can generate revenue for themselves ( which they share with the referring doctor). This is why so many IVF specialists are quite happy to order the "latest" genetic tests for their patients - after all, isn't this the age of "personalised precision medicine" ? This also helps them to demonstrate to the patient that they are doing everything possible !

This is why IVF specialists end up ordering a wide range of useless tests , all the way from chromosomal testing ; to sperm DNA fragmentation ; to routine prepregnancy genetic carrier testing  for a host of rare disease.

This is why it's so important for patients to read the fine print before signing up for these expensive tests ! Thus, it is common to find many gene variants , but their clinical significance is not clear. Not only do abnormal results cause a lot of unnecessary mental stress, the truth is that it is not possible to exclude every disease risk utilizing these expensive genetic panels, no matter how "comprehensive" they are !

This kind of "spray and pray" routine machine-gun genetic testing  is much worse than looking for a needle in a haystack ! Because there are so many needles , there are tons of false positives, as a result of which patients end up wasting time and money while their doctor goes around chasing red herrings !

Do you suspect that your doctor is groping in the dark, and is covering up his ignorance by ordering too many tests ?

 Please send me your medical details by filling in the form at so that I can guide you !

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