The Young family from Oregon, U.S. have used genetic screening to test their embryos for a variation of the BRCA gene that significantly increases the risk of breast cancer, reports OPB. This process can also be used on many genetic rare diseases.
The couple, Brittany and Whitney, decided to have children when they were in their thirties. Since Brittany was born without a uterus the couple needed to use in-vitro fertilisation and a surrogate to carry the baby for them. These procedures, which cost approximately $100,000, involved Brittany’s eggs being taken and fertilised in a laboratory and then placed into a surrogate female who would carry the foetus.
Whitney’s family also has a history of breast cancer and carrying a variation of the BRCA gene that has been linked to a significantly increased risk of developing breast cancer. His grandmother had developed breast cancer, and both his mother and sister had undergone double mastectomies to avoid its development. Whitney says,
“It’s definitely something that we’ve thought about a lot in our family.”
The BRCA gene plays a role in tumour suppression, which acts to reduce cancer development. However, certain variations in this gene mean that it is no longer effective and the risk of developing cancer is increased. The largest effect is thought to be on breast and ovarian cancers. While about 12% of women will develop breast cancer at some point in their lives, women with the BRCA variation have about a 70% chance of developing it by 80. It also has a strong effect on the risk of developing ovarian cancer; 1.3% of women in the general population develop ovarian cancer, but those with the BRCA alteration have between a 17 to 44% chance of getting it, depending on the type of gene alteration.
Whitney decided to get tested for it and found out that he was a carrier. After consulting with medical professionals, the couple decided to pay another $5,000 to $10,000 to screen their embryos for the BRCA variation. This process is known as ‘pre-implantation genetic diagnosis’. It involves the doctors screening all the embryos for the altered gene so that the ones without the variation can be implanted in the surrogate. As a result, the child will have a lower cancer risk.
The same screening process can be used for many other inherited genetic diseases, such as sickle cell anaemia, Huntington’s disease, cystic fibrosis, other forms of cancer, and many others. This can help people who carry the genes for genetic conditions who do not want to pass it on to their children. As the technology continues to develop, the prices for this process are decreasing. For example, a couple of years ago a genetic test for cystic fibrosis would have cost $2,000, but now can be done through a blood test for a couple of hundred dollars. However, the cost of these procedures remains expensive and can be prohibitive for families without the means to pay for them.
The procedures have been successful for the Youngs, who now have a two-year-old son called Hazen. They say that explaining their complicated and unusual route to parenthood was something that they were apprehensive about, but that
“once we shared why [we were doing it] people totally understood.”
