First baby preselected as “breast cancer gene-free” born in the UK



Resource post for January

It is not surprising that it happened in the UK first. After all, this is the country where the first in vitro fertilization baby was born 30 years ago. It is the country where last year, development of human-animal embryo hybrids for research was legalized as well as the conception of savior siblings.

Thus, it is no surprise that the first supposedly “breast cancer-free” baby way born in the UK a couple of days ago and took over the headlines and raised some ethical questions.

Prenatal and preimplantation diagnostics

Prenatal diagnostics is not new. Fetuses are screened for chromosomal aberrations such as Down Syndrome early in the gestation period by amniocentesis and chorionic villus sampling (CVS). Preimplantation genetic diagnosis (PGD) or preimplantation genetic screening (PGS) goes even further and tests for genetic aberrations that cause life-threatening disorders such cystic fibrosis, sickle-cell anemia, and Huntington’s disease before implantation of the embryo. Testing for the breast cancer susceptibility genes was approved by the UK’s Human Fertilisation and Embryology Authority in 2006.

The breast cancer susceptibility genes

The so-called breast cancer-free baby was conceived through in vitro fertilization. Several eggs from the mother were fertilized with the father’s sperm in the lab. The resulting embryos were then screened for mutations in the genes BRCA1 and BRCA2 which make them susceptible to breast cancer. Two of the embryos were declared free from these mutations and were implanted in the mother’s uterus. A healthy baby girl was born on a few days ago.

The parents deemed the genetic preselection of the embryos necessary because all of the father’s close female relatives had breast cancer, making him a most likely carrier of the breast cancer genes. Women with either faulty BRCA1 or BRCA2 are seven times more likely to develop breast cancer during her lifetime compared to those who do not have them. By making sure that their baby is free from these genes, the parents hoped to break the genetic chain that passes on the faulty genes to the next generation.

Dubbing the baby, however, as “breast cancer-free” as many newspapers have done is kind of premature, a misnomer in fact. The BRCA1 and BRCA2 mutations accounts only for about 5 to10% of cases of breast cancers. There is still a lot to know about the remaining 90 to 95% of cases, which may be caused by environmental factors as well as other yet unidentified genes. Thus, the baby is currently “breast cancer gene-free” or more accurately “BRCA1 and BRCA2-mutation-free.”

The ethical questions

However, regardless of how she is called, the baby will learn one day that the circumstances of her conception and birth triggered ethical debates the world over.

Some criticized the doctors and parents for “playing God” by using PGD.

Some claim this is the start of the “Gattaca era” recalling the 1997 science fiction movie of that title about a world populated by “genetically designed” individuals.

There are others, however, who sympathize with the parents, and feel they would do the same if they had the chance of “freeing” their offsprings from potentially deadly diseases. In the end, this type of prenatal selection is more justified than sexual preselection in favor of male embryos, which is commonly (though not openly) practiced.

Another ethical concern, an issue that is not unique to PGD alone but is true to the whole field of IVF and assisted reproduction techniques is the fate of the rejected embryos. The number of left over embryos from IVF procedures that are currently stored in deep freeze is quite high – 500,000 embryos in the US alone. And the question of their fate is something that that parents, doctors, and lawmakers cannot agree upon. A survey by Duke University researchers presented IVF parents the following options:

  • indefinite freezing
  • donation for research
  • reproductive donation
  • thawing and discarding

The most popular options were the first 2 whereas the last 2 were not acceptable. However, indefinite freezing is not a real solution and donation for research is not legal in many countries.

In the US, several states are considering legislation would recognize an embryo as a person. Thus, “abandoned” embryos may become wards of the stat and can even be put up for adoption.

The future of PGD

Doctors handling the case emphasize that PGD is not the answer to every genetic disorder problem nor is it a cure for cancer. PGD is also not suitable for all cases and all couples. Besides, the use of PGD in the UK is still highly regulated and is evaluated on a case to case basis. However, the case has definitely set a precedent that many would try to follow suit. Louise Brown, the first IVF baby was born a little over 30 years ago in the UK. Since then, millions of babies have been conceived through IVF. We would therefore expect that PGD in connection with breast cancer and other cancers with identified susceptibility genes will soon be a standard procedure in fertility clinics. Whether the ethical issues can be resolve soon is another matter.

So tell us, what is your take on PGD?

Photo credit: stock. xchng

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NOTE: The contents in this blog are for informational purposes only, and should not be construed as medical advice, diagnosis, treatment or a substitute for professional care. Always seek the advice of your physician or other qualified health professional before making changes to any existing treatment or program. Some of the information presented in this blog may already be out of date.
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