Understanding options

(Second in a four-part series on genetic screening for Jews)

Physically speaking, it is pretty easy to get screened to see if one might be a carrier for any of 18 identified genetic Ashkenazi diseases — just a simple blood test. But the medical implications and ethical issues surrounding that screening can be much more complex.
While advancing medical technology continues to provide cheaper and more accurate genetic tests, as well as more family planning options, there are still ethical issues to consider when talking about Ashkenazi genetic screening, according to Dr. Paul Root Wolpe, Director of the Center for Ethics at Emory University, and the Raymond F. Schinazi Distinguished Research Chair in Jewish Bioethics.
“My fear is, if we suggest to young Jews they get tested for these 18 diseases, and they’re fine, couples could still be carriers for other diseases,” Wolpe said. He warned against Jews believing falsely that they carry genes entirely free from all diseases, when they have only been tested for 18.
Genetic screening is a process in which an individual’s genes are examined for various mutations. Many of these mutations arise more frequently in Ashkenazi Jews than in the general population, making Ashkenazis more likely to be recessive carriers of many hereditary diseases, including cystic fibrosis and Gaucher’s disease. Recessive carriers have no symptoms of the disease, but could pass on those genes to their children. If both partners in a marriage are carriers of the same mutations, they have a one in four chance of conceiving a child who is afflicted with the disease.
One “minor, but not insignificant” ethical issue to consider when talking about genetic screening, according to Wolpe, is giving the appearance that Jews are somehow genetically flawed.
“The idea is past its prime,” he said. Still, he noted that certain white, Aryan websites cling to the concept.
On Wednesday, Oct. 13, members of the Pittsburgh Jewish community between the ages of 18 and 29 will have the opportunity to be screened at Hillel Jewish University Center, thanks to the Pittsburgh Victor Centers Partnership. The Victor Centers for Jewish Genetic Diseases, based in Philadelphia, provide genetic education, screening and counseling services at various cities throughout the country. The Pittsburgh screening will be covered by insurance or underwritten with funds from a community grant.
Genetic screening performed prior to pregnancy affords a couple the most reproductive options. If it is found that both partners are carriers of a certain disease, their decision then becomes one focused on preventing conception of an afflicted child, rather than whether such a pregnancy should be terminated.
If a couple finds both partners are carriers for a particular disease, “it is no reason to not have children,” Wolpe said. “But a lot of decisions flow from these tests. Widespread testing is not enough. Getting tested with the proper decision-making support is the goal.”
That’s why, at the Pittsburgh screening on Oct. 13, the Victor Centers will provide genetic counseling both before individuals are tested, and after they get their results.
When both partners are carriers, “there are several options,” said Dr. Adele Schneider, director, clinical genetics, and medical director, Victor Center for the Prevention of Jewish Genetic Diseases, Albert Einstein Medical Center in Philadelphia. Referral to a genetic counselor is critical to ensure that the couple understand their options.
Those options include: using either a sperm or egg donor that is not a carrier of the disease; adoption; in vitro fertilization (IVF), implanting only embryos that test negative for disease; and, finally, getting pregnant with no intervention, with the option of pregnancy termination if prenatal testing shows the fetus is afflicted.
The most popular route is that of in vitro fertilization, Schneider said.
“Every couple I deal with now try it,” she said. “All of these people have had an affected child; most found out they were carriers during pregnancy.”
“It’s amazing technology,” Schneider continued. “And people do have successful outcomes, but not 100 percent of the time.”
Selective embryonic implantation does not pose an ethical problem to most Jewish denominations, Wolpe said, because there is no prohibition against discarding embryos that are not implanted.
“Some authorities will say there is a dignity issue, and that you shouldn’t just throw them in a trash can. But it is not a Jewish concept that you must keep all embryos to term,” Wolpe said. “Jewish authorities are in fairly universal agreement that early embryos can be used for research because of the concept of pikuaf nefesh (saving a life). In traditional Jewish thought, a baby before 40 days is like a drop of water. Also, the embryo has not yet been implanted.”
IVF can be a good choice for couples faced with a genetic disposition for a genetic disease, according to Rabbi Aaron Bisno of Rodef Shalom Congregation, a proponent of pre-conception screening.
“From a liberal Jewish perspective, doing what a couple needs to do to bring a child into the world is encouraged,” he said.
Embryonic selection is a form of eugenics, but not in the negative historical connotation of the word, according to Wolpe.
“I want people to understand that this is eugenics,” Wolpe said.
“It’s not eugenics in the classic sense, in the Nazi sense of state-run eugenics. This is individualized eugenics. By definition, eugenics is the process of manipulating the genetic profile of children to maximize genetic health. But we’re doing this individually rather than by a state mandate. It’s disturbing because of the history of the word. But this is eugenics that has its proper role.”
Another issue of which people need to be aware is that while genetic testing can provide vital information to young couples considering parenthood, it is not 100 percent accurate and sometimes reveals information better left hidden, according to Wolpe.
“It’s not perfect,” he said. “There can be false positives and false negatives for all 18 diseases. When you test for 18 diseases, and do a million tests, you’re going to have 1,000 people told they are carriers when they’re not, and 1,000 people told they are not carriers when they are.”
In addition, “there is a very small chance for information to be given that people don’t want to know,” including implications for false paternity, said Wolpe.
“But the point is that none of these problems override the benefits of genetic testing,” Wolpe continued. “There is a danger that people will think of it as a simple thing. But finding out this information can be very complicated, and lead to some difficult decisions.”