A British woman made news earlier this week when doctors reported that they had used in vitro fertilization (IVF) and pre-implantation diagnosis (PGD) to ensure that she would become pregnant with a baby that did not carry a BRCA mutation.

The 27-year-old woman is now about 14 weeks pregnant with a baby girl. Her husband has an extensive family history of breast cancer, and was found to carry the BRCA-1 mutation. According to some media reports, she has a family history of the disease as well.

In an IVF procedure, a woman’s eggs are surgically removed from her ovaries and then combined with sperm in a laboratory dish. One or more embryos are then transferred from the laboratory dish into the woman’s uterus.

Individuals undergoing IVF may be given the option to have PGD, which is also referred to as embryo screening. PGD has been used in the United States for about 15 years to screen for mutations that cause breast, bowel, and eye cancers as well as other diseases. By screening the embryos, doctors are able to ensure that only embryos without a certain genetic condition or chromosomal problem are transferred back into the uterus. The technique is also used to screen for chromosomal problems in couples who have tried IVF repeatedly and failed to become pregnant.

After the British doctors performed IVF, ten embryos developed. PGD found that four of these embryos did not carry the BRCA mutation. Two of these embryos were transferred back into her uterus and the other two were frozen for future use. The six that did test positive for the BRCA mutation were destroyed.

Woman who carry a BRCA mutation have a 50-85% of developing breast cancer. By using PGD to screen for the BRCA mutation, the couple has ensured that their daughter will not carry this particular mutation of the BRCA gene. This doesn’t mean that her risk has been eliminated. Rather, it will be the same as that of any other woman who does not carry the BRCA mutation. Also, we must keep in mind that there are other genes and mutations that we have not yet identified that could increase risk as well as carcinogens in the environment that we cannot control.

As I said on the Today Show, I do not agree with this approach. For one it is an illusion of control. What if the drugs used to develop and harvest the embryos cause cancer? We know that DES, which, in the 1950s was given to women in the first few weeks of pregnancy to prevent miscarriage caused cancers of the vagina in the babies.

We cannot control which genes our children receive nor can we control the unintended consequences of trying to. In addition, this woman is assuming that we will not find a better way to prevent breast cancer in the next thirty years (most hereditary breast cancers do not occur until age 30-50). A lot can happen in thirty years. Think of cancer of the cervix: thirty years ago an abnormal Pap smear meant a hysterectomy because we did not know what caused the disease or how to prevent it. Now we know it is sexually transmitted and caused by a virus and have a vaccine!

Certainly we at the Foundation are working hard on some very promising means for prevention as are many others. I feel strongly that we should not be putting our efforts into eliminating babies with abnormal mutations, who may or may not develop the disease, but rather into eliminating breast cancer all together by finding the cause and how to prevent it.

What do you think? Does PGD just offer parents an illusion of control? Is PGD for the breast cancer mutation a “slippery slope” toward “designer” babies? Is testing an embryo different than testing a fetus for Down syndrome or other chromosomal disorders? If you or your partner carried a BRCA mutation and could afford IVF and PGD—or had it covered by your insurance—would you do it?

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5 Responses to Screening Embryos for BRCA Mutations

  1. Rachel says:

    I take it you are not BRCA positive. I am, and have three children, one of whom is female. I lost one sibling and my mother to breast cancer before they reach 40 years old. I will have to endure years of potential worry about my daughter and perhaps for my grandchildren as well. If I had known about the genetic testing, I would have done PGD in a heartbeat. To equate it with “designer” babies is cruel and insensitive.

  2. Joanna says:

    Same here. I’m BRCA1. I’ve had breast cancer;triple negative. I’ve had lumpectomy, chemo, radio, a hysterectomy, am facing double mastectomy and reconstruction.

    My daughter is 26. I’m terrified she will get it. I don’t want her to suffer.

    I wish PGD had been available to me. I have a colleague who was having it done with his wife TODAY. Good luck to them!

  3. Julia says:

    My husband and I are waiting for his BRCA2 test results. Given that our current cancer treatment is still pretty primitive, I don’t want to assume cancer will be a breeze for my kids in 30 years. I understand I can’t prevent everything bad that might happen to my kids, but I sure want to try to prevent the major things.

  4. Brooke says:

    I am BRCA1 and will do PGD when I am ready for children. You say that the drugs used for IVF may cause cancer, but we have been doing IVF for years (I was actually conceived through IVF as well–my father is infertile so my parents used a sperm donor) and there is, as yet, zero evidence to suggest anything of the sort. We’re not looking for kids who have a certain gender, hair color, etc. We just want to save them from the pain we are facing. For me that is mastectomy and oophorectomy if I am lucky, and cancer/death if I’m really unlucky. You also point out that we have been able to save lives with the HPV vaccine. That happened because we realized that HPV could cause cervical cancer. In our case, BRCA is the cause of our breast cancer. If we eliminate the BRCA mutation, our chances of breast cancer go down to normal. Our children have a fighting chance–they’ll never have to worry about anyone the same way we do. It’s truly amazing.

  5. Julia says:

    Protecting your future children from a genetic mutation that more often than not has painful and lethal complications is not “creating a designer baby”; it’s love. What parent wouldn’t spare their child suffering if they could?

    I have the BRCA1 mutation and am currently undergoing IVF with PGD to avoid passing this heinous mutation on. It is easy to sit where you are and say what you’ve said, knowing you only have an average risk of cancer. But from my perspective, as the ONLY LIVING FEMALE remaining in my family (they have ALL died of breast cancer in their 40s from the BRCA1 mutation), having to cut off my breasts, cut out my ovaries, go into debilitatingly early menopause, all by the time I’m just 30, and still have to pray I don’t get pancreatic, gastric, colon or one of the other also associated BRCA1 cancers…. Well, let’s just say things look a little bit different over here.

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