December 1, 2014

Preimplantation Genetic Testing Can Touch on Sensitive Ethical Issues

It’s vital to ensure that patients understand the complex choices available


As preimplantation genetic diagnosis and screening become a more common part of in vitro fertilization, some clinicians are facing new ethical dilemmas for which there are few laws or regulations to guide them. For example, while testing to avoid conditions such as Huntington’s disease is generally seen as acceptable, selecting embryos based solely on gender touches a nerve for many people.


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Similarly, screening for conditions that are not likely to manifest themselves until adulthood is less comfortable territory than screening for ones that are more catastrophic in early life, such as Tay-Sachs, says Cynthia Austin, MD, director of Cleveland Clinic’s IVF program.

Official views evolving

In the past, the American Society for Reproductive Medicine (ASRM) opposed testing solely for gender selection. However, it has revised that to state that sex selection aimed at creating gender variety in families does not increase the risk of harm to children, women or society so greatly that its use should be seen as unethical in all cases.

ASRM does caution, however, that patients need to be fully informed, including being told that the technology is not foolproof. It also strongly recommends that an experienced genetic counselor be involved with patients considering any preimplantation genetic or chromosomal testing procedures.

Practitioners are under no legal or ethical obligation to provide nonmedically indicated intervention for gender selection, ASRM says. This has left reproductive programs to create their own standards, says Dr. Austin.

These standards change as technology and information evolve, and need to be reviewed regularly, she says. At Cleveland Clinic, the current policy is to provide a patient who has undergone testing with all of the information obtained from that process.


Ultimately the patient’s choice

“It is not my place to judge what the patient decides. It is a personal decision,” Dr. Austin says. “In the United States, both genders are valued equally so we don’t have the issues of strong cultural preferences for males that are seen in some countries. Most families today that want to choose a gender are doing so for family balance.”

Discarding an embryo due to genetic problems, or even gender preference, before pregnancy begins is generally more ethically acceptable than having the woman conceive and then do testing, which leaves the woman having to decide whether to terminate the pregnancy, Dr. Austin says.

Cost considerations

Finding out that an embryo has genetic or chromosomal irregularities early can also save patients the expense of trying to utilize it for a pregnancy that, in many cases, is unlikely to be successful, as most embryos with chromosomal problems will not develop.

“In vitro with PGD can be a $20,000 procedure. Is it worth it to avoid using an embryo with chromosomal problems? For some patients, yes,” Dr. Austin says. “For someone who has had to face the agonizing decision to abort a previous pregnancy due to a problem, or faced a loss due to one, the decision is clear. For gender selection? That’s a different matter.”

Safeguarding sensitive information

Another ethical complication that can arise when a patient whose relatives have a condition such as Huntington’s disease does not want to know if he or she carries the gene for it. Their reproductive team can test the embryos and only report on how many “nonaffected” embryos are available. They will not mention how many, if any, were affected.


Dr. Austin said she believes that all despite the controversies surrounding preimplantation testing, reproductive physicians should thoroughly explain all options to their patients. If he or she does not feel comfortable performing certain services, they can and should refer patients to someone else.

“It can be very complicated for patients today, as there are so many options available and technology is expanding so fast,” she says. “We need to make sure they understand all of their choices and, as a team, we are always going back and discussing the latest developments amongst ourselves so that we are all on the same page.”

Photo © Russell Lee Photography

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