Wednesday, July 7, 2010

Passing it on

One of the questions we were asked at the FORCE conference was why we did not devote more time/space in Positive Results to the issue of preimplantation genetic testing, known as PGD.  The honest answer is space.  We had a word limit for our manuscript and we we had a lot of critical information to cover.  While we do discuss the mechanics of PGD in Chapter 4, there is more that can be said about this important issue. 

What is PGD?

PGD is a reproductive technology used to identify genetic abnormalities in embryos created through in vitro fertilization (IVF).  The embryos with genetic abnormalities such as BRCA mutations can be discarded and not implanted into the mother thereby virtually guaranteeing that the child born will not carry the identified family genetic mutation.  The likelihood that the baby will be mutation free is 98 percent.

One thing that became clear from our conversations with a variety of women at the conference is that there are lots of strong feelings on this subject.  Some women clearly feel that they want this ugly mutation to stop with them and not be passed on to the next generation.  If they have the power to do that, then they will, provided the cost is within their budget.  Other women feel that they/their mother/their cherished grandmother would not have been born if a prior generation had made such a selection.  They believe that despite the mutation the world is a better place because these women were in it and they do not believe one should tinker with nature.

Fortunately, this is an individual decision and there is no Orwellian big brother dictating our actions.  But as with most decisions, reality does play a role.  Even for couples who favor not passing on a BRCA mutation to their children, the expense and inconvenience of the procedure may be a deterrent.

PGD is expensive.

On average, PGD costs about $3,000 on top of the cost of IVF, which can cost $10,000 to $20,000 per cycle.  In the United States this cost is rarely covered by insurance, thereby putting use of this technology out of reach for many.

In countries with public health systems, the cost of IVF and PGD may be totally covered.  I had a conversation with a woman from Britain at the FORCE conference who said that her BRCA-positive daughters had been offered PGD as part of their family planning.

Considerations are different for women who are facing the end of their fertility because they have been diagnosed with cancer or because they are previvors who have not yet found a partner but who are reaching the age when they must consider prophylactic oophorectomy (removal of the ovaries) to prevent cancer.  For these women, preserving fertility likely means fertility treatments to stimulate egg production, harvesting eggs, and freezing eggs or embryos conceived through IVF.  These procedures can preserve a woman's fertility for a later date, including preserving fertility for after chemotherapy.  Women's Health magazine has an article this month on preserving fertility in the face of a breast cancer diagnosis.  You can find it here.  For these women, the incremental cost of PGD on top of IVF costs is not likely to be a barrier to using the technology.  And for BRCA-positive women who have already been diagnosed with cancer, the impetus to prevent this disaster from befalling their future children is high.

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  1. I feel that research and technology have evolved to be used for the health of future children. Our parents didn't have a choice, I didn't have a choice, but my children will have. My grandmother died aged 45 leaving 7 children motherless because of this BRCA gene. My mother has had to nurse and watch both her mother and her sister die from ovarian and breast cancer and now nurse her daughter (me) through ovarian cancer. I would do anything to prevent my children having to go through that heartache. In my mind screening embryos before implantation to ensure they don't have the BRCA gene mutation could prevent this.
    If my children can eradicate this spectre that hangs over our family, if I can live the rest of my life knowing that if I am lucky enough to have grandchildren they will not have to live with the worry of this genetic mutation, of the threat of cancer or of the radical surgeries required to reduce their risk, than I would be very happy.

  2. Thanks for sharing Sharon. And we agree, the point is that now there is a choice.

  3. Cancer Research UK have an interesting article re PGD giving their viewpoint: