PGD Testing for BRCA Gene Mutations

Spoken Word : Valerie Lopez

Although somewhat controversial, there are certain instances where specialized PGD (aka PGT-M) testing can be a breakthrough stage in creating a healthier gene pool.

The specific case we’ll take a look at is the existence of BRCA gene mutations. Let’s start out with knowing that having a BRCA gene mutation does not mean someone is destined to get cancer. There is, however, an increased probability.

Everyone has BRCA genes (BRCA 1 and BRCA 2) and inherits 2 copies of these genes, one from each parent. These genes, when healthy, repair damaged DNA, preventing mutating cells from reproducing rapidly and causing harm. 

When BRCA genes mutate they are unable to do their jobs as tumor suppressor genes, increasing the probability of breast, ovarian, prostate, pancreatic, and/or melanoma cancers.

Families that have experienced a history of cancer could be considered a red flag for carrying mutations of BRCA genes. And it is in this situation that specialized PGD / PGT testing for BRCA1 and BRCA2 can help mitigate, reduce, and even hopefully eliminate cancer in that gene pool moving forward. 

Eliminating BRCA1 and BRCA2 gene mutations from your family gene pool is, however, the greatest gift you can give to your future progeny.

Dr V

I think we can all agree that no one wants to be dealt the hand of dealing with that insidious illness. And although we cannot go back and change the past, we can do something to help change the future for our children. This is the gift that technological advances in genetics gives us. 

Although choosing to get tested for BRCA can be a scary thing, doing so when trying to conceive can help ensure that our children will have a better chance of living healthy lives. There are, of course, external influences that can cause cancer. Eliminating BRCA1 and BRCA2 gene mutations from your family gene pool is, however, the greatest gift you can give to your future progeny.

A very important note I want to clarify is that men and women – both – can be carriers for mutations of the BRCA genes. So it is important that both partners be screened for BRCA1 and BRCA2 gene mutations. 

Also, having the mutation means that some of the embryos can carry the BRCA gene mutation and some might not. This is why specialized PGD / PGT-M testing for the BRCA1 and BRCA2 gene mutations is such a powerful tool. By choosing embryos that do not have the mutation, you ensure, as best as possible, that your children and your children’s children can have a better chance at a cancer-free future.

  • BRCA1 and BRCA2 genetic testing is not automatically part of standard genetic testing. BRCA1 and BRCA2 genetic mutations are not part of the standard PGD/PGT embryo testing at IVF clinics. These are specialized tests that must be requested and sometimes even demanded. 

Copyright© Valerie L Lopez 2022  All Rights Reserved

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