Aurélie Chuong, Vice President and Treasurer, [email protected]
CBS’s Norah O’Donnell investigated for “60 Minutes” new procedures that could potentially become more and more popular for parents to screen for potential diseases in their future children [1]. One mother of two (2) young children, Melinda, who was interviewed chose to screen her embryos because she was diagnosed with breast cancer at the age of 29 and found out that she carried the BRCA1 mutation. Carrying a mutation in the BRCA1 or BRCA2 genes increases a woman’s lifetime risk from 11% to between 56% and 85% for breast cancer and from 1.8% to between 16% and 45% for ovarian cancer [summarized in 2]. Melinda chose to get screened and have her embryos screened so that her children could avoid a lifetime of worrying about a potentially deadly disease such as breast and/or ovarian cancer, among other diseases [1].
As genetic sequencing becomes more and more popular and the price starts to drop, this topic reminded me of the movie “Gattaca,” starring Ethan Hawke and Uma Thurman. Sorry for those who have not seen this movie yet but I promise to not spoil it too much for you. Relating to the topic in this blog entry, Ethan Hawke plays a character whose parents conceived him naturally but as soon as they found out he had a heart condition and was predisposed to other diseases, both of which would limit his future/potential. Wanting a second child, the parents decided to “design” their second son to be tall, strong, smart, and without that unlucky heart defect.
Seems like the "Gattaca" days are upon us (if you can afford it)! According to Melinda, she and her husband close to “$16,000 – a small price to pay, Melinda says, for her children's health” – for Dr. Mark Hughes’ preimplantation genetic diagnosis (PGD) [1]. Other downsides are that opting for screening requires in vitro fertilization and having multiple embryos to be screened [1].
Having been diagnosed at 26 with an ovarian tumor and wanting to have children in the future, I have been pondering getting tested for the BRCA1/2 mutations. However, those are not the two (2) sole mutations that could lead to ovarian cancer [3], and more research is still needed to understand the molecular processes of cancer development and progression. As Siddhartha Mukherjee, M.D., writes in his book entitled The Emperor of All Maladies, “With cancer, it was the similarity of the cancer cell to the normal human cell that made it nearly impossible to target.” Once we understand how cancer works, which will lead to the identification of all potential mutations, then can genetic testing/screening be the go-to preventative method.
However, is genetic screening of embryos ethical? Despite only using a single cell for PGD, what happens to the unwanted embryos? And if genetic screening is ethical, is designing a test tube baby acceptable or are we playing God? Norah O’Donnell brought up Lee Silver’s patent for GenePeeks which creates digital babies from two (2) potential parents, focusing on uncovering the possibility of an embryo developing recessive disorders [1]. His and Dr. Hughes’ answer were similar: saying “no” to those who violate the true purpose of their inventions, which is disease screening.
I am still on the fence about getting genetic screening for myself. In some ways, I am curious to see what my genetic medical story is so that I am better prepared for future diseases and the possibility of passing on any predisposing mutations to future generations. On the other hand, I do think that cancer research still has to make some headway in understanding cancer development and progression so I think until then, I will wait.
[1] O’Donnell, N. Simon, T. (Producer). “Breeding Out Disease.” “60 Minutes.” CBS, Inc. Aired 26 Oct 2014. Accessed 27 Oct 2014. <http://www.cbsnews.com/news/breeding-out-disease-with-reproductive-genetics/>
[2] Andersen, M. R., Bowen, D., Yasui, Y., & McTiernan, A. (2003). “Awareness and concern about ovarian cancer among women at risk because of a family history of breast or ovarian cancer.” American Journal of Obstetrics and Gynecology, 189(4), S42-S47. doi: 10.1067/s0002-9378(03)01078-0
[3] Kanchi, K. L., et. al (2014). “Integrated analysis of germline and somatic variants in ovarian cancer.” Nature Communication, 5, 3156. doi: 10.1038/ncomms4156
[4] Mukherjee, S. (2010). The Emperor of All Maladies: A Biography of Cancer. Scribner, A Division of Simon and Schuster, Inc. New York, NY. ISBN: 858-0001040431
CBS’s Norah O’Donnell investigated for “60 Minutes” new procedures that could potentially become more and more popular for parents to screen for potential diseases in their future children [1]. One mother of two (2) young children, Melinda, who was interviewed chose to screen her embryos because she was diagnosed with breast cancer at the age of 29 and found out that she carried the BRCA1 mutation. Carrying a mutation in the BRCA1 or BRCA2 genes increases a woman’s lifetime risk from 11% to between 56% and 85% for breast cancer and from 1.8% to between 16% and 45% for ovarian cancer [summarized in 2]. Melinda chose to get screened and have her embryos screened so that her children could avoid a lifetime of worrying about a potentially deadly disease such as breast and/or ovarian cancer, among other diseases [1].
As genetic sequencing becomes more and more popular and the price starts to drop, this topic reminded me of the movie “Gattaca,” starring Ethan Hawke and Uma Thurman. Sorry for those who have not seen this movie yet but I promise to not spoil it too much for you. Relating to the topic in this blog entry, Ethan Hawke plays a character whose parents conceived him naturally but as soon as they found out he had a heart condition and was predisposed to other diseases, both of which would limit his future/potential. Wanting a second child, the parents decided to “design” their second son to be tall, strong, smart, and without that unlucky heart defect.
Seems like the "Gattaca" days are upon us (if you can afford it)! According to Melinda, she and her husband close to “$16,000 – a small price to pay, Melinda says, for her children's health” – for Dr. Mark Hughes’ preimplantation genetic diagnosis (PGD) [1]. Other downsides are that opting for screening requires in vitro fertilization and having multiple embryos to be screened [1].
Having been diagnosed at 26 with an ovarian tumor and wanting to have children in the future, I have been pondering getting tested for the BRCA1/2 mutations. However, those are not the two (2) sole mutations that could lead to ovarian cancer [3], and more research is still needed to understand the molecular processes of cancer development and progression. As Siddhartha Mukherjee, M.D., writes in his book entitled The Emperor of All Maladies, “With cancer, it was the similarity of the cancer cell to the normal human cell that made it nearly impossible to target.” Once we understand how cancer works, which will lead to the identification of all potential mutations, then can genetic testing/screening be the go-to preventative method.
However, is genetic screening of embryos ethical? Despite only using a single cell for PGD, what happens to the unwanted embryos? And if genetic screening is ethical, is designing a test tube baby acceptable or are we playing God? Norah O’Donnell brought up Lee Silver’s patent for GenePeeks which creates digital babies from two (2) potential parents, focusing on uncovering the possibility of an embryo developing recessive disorders [1]. His and Dr. Hughes’ answer were similar: saying “no” to those who violate the true purpose of their inventions, which is disease screening.
I am still on the fence about getting genetic screening for myself. In some ways, I am curious to see what my genetic medical story is so that I am better prepared for future diseases and the possibility of passing on any predisposing mutations to future generations. On the other hand, I do think that cancer research still has to make some headway in understanding cancer development and progression so I think until then, I will wait.
[1] O’Donnell, N. Simon, T. (Producer). “Breeding Out Disease.” “60 Minutes.” CBS, Inc. Aired 26 Oct 2014. Accessed 27 Oct 2014. <http://www.cbsnews.com/news/breeding-out-disease-with-reproductive-genetics/>
[2] Andersen, M. R., Bowen, D., Yasui, Y., & McTiernan, A. (2003). “Awareness and concern about ovarian cancer among women at risk because of a family history of breast or ovarian cancer.” American Journal of Obstetrics and Gynecology, 189(4), S42-S47. doi: 10.1067/s0002-9378(03)01078-0
[3] Kanchi, K. L., et. al (2014). “Integrated analysis of germline and somatic variants in ovarian cancer.” Nature Communication, 5, 3156. doi: 10.1038/ncomms4156
[4] Mukherjee, S. (2010). The Emperor of All Maladies: A Biography of Cancer. Scribner, A Division of Simon and Schuster, Inc. New York, NY. ISBN: 858-0001040431