New “app” for preimplantation genetic diagnosis (PGD)

Preimplantation genetic diagnosis, known as PGD, has been used in conjunction with IVF for years to avoid having a child with a serious genetic disease such as cystic fibrosis, spinal muscular atropy and Tay-Sachs. Now, as reported in an article in the February 18 edition of the Wall Street Journal, its use is being extended to aviod transferring a gene which would give the child an increased risk of cancer.

An increasing number of women are choosing PGD to avoid giving birth to children who carry mutations in the BRCA genes, which increase the risk for breast and other cancers.

A parent with a mutation on the BRCA1 or BRCA2 genes has a 50-50 chance of transmitting it to the next generation. Between 45% and 65% of women with the mutations are expected to be diagnosed with breast cancer by age 70, according to the National Cancer Institute. That compares with about 12% of women in the general population.

BRCA mutations, which also increase the risk for ovarian, prostate and other cancers in men and women, are relatively rare, accounting for 5% to 10% of all breast cancers. Some women undergo prophylactic mastectomy to reduce their chances of getting the disease.

Critics fear genetically vetting embryos can be used to create so-called designer babies. Embryos with the gene mutation may be discarded, which some critics also oppose. Opponents of PGD for breast cancer also say that having a BRCA-gene mutation doesn’t mean a person will necessarily get the disease and that there are options for detecting and treating the cancer.

To me, this is nonsense. When you see the agony the individual who suffers from breast cancer and the fear that pervades her family, the ability to remove this gene from future generations makes all the sense in the world.

RPMG provides PGD for a host of genetic diseases including the BRCA1 and BRCA2 gene.