There are new methods — some scientifically advanced, others old fashioned, but all controversial — that couples are using to helt the spread of dangerous genes that have stricken families for generations. (Photo: Getty Images)



Love at first sight? Easy enough. But what about couples who fall in love and then learn that they are both carriers for a shared genetic disorder?

This is what my husband and I learned after almost seven year of dating and nearly three years of marriage when we learned that we were both carriers for Tay-Sachs disease, a genetic disorder prevalent amongst Eastern European Jews. The twist in our story? Though I had been born Jewish, the grandchild of Holocaust survivors who had immigrated shortly after the end of World War II, my husband, who had converted to Judaism, was born and raised Catholic in a small, rural community.

Sunday evening on 60 Minutes, Norah O’Donnell investigated the ever-evolving field of reproductive genetics and the new advances in the field that are allowing people such as my husband and myself to build their families while also eliminating the possibility of passing on often deadly genetic disorders.

When a male and female partner both carry a mutation for a common disorder, any biological children they have together is at risk of being born with the disorder. Many genetic disorders — such as cystic fibrosis, perhaps the most common of such conditions — can significantly alter a person’s quality of life, while some, such as Tay-Sachs, can even lead to death, often at a startlingly young age.

Because we are both carriers of this recessive genetic disorder, we would have a one in four chance of having a child being born with — and dying from — Tay-Sachs, an always fatal condition. Most children born with it do not live past the age of five, if that. So, with the advice of both our gynecologist and our reproductive endocrinologist, we decided to spare ourselves and a potential child from the effects of the disease, choosing to conceive via in vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS), a process that allows embryos to be created and screened for both our specific mutation as well as chromosomal abnormalities before it’s ever transferred to the uterus. For us, this was the right way to grow our family; our daughter was born this spring.

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“I think it’s going to be used by society in the 21st century, just like we used antibiotics and other advances in the 20th century, to drastically reduce the risk of infectious disease,” Lee Silver, a professor of molecular biology at Princeton and the co-founder and Chief Scientific Officer of GenePeeks, told O’Donnell last night of the potential of procedures like PGD and other innovations in the field of reproductive genetics. “We’re going to be able to drastically reduce the risk of genetic disease.

But for others in particularly at-risk populations are turning to other methods to prevent the birth of children with rare genetic disorders, turning to an old-fashioned practice utilized in a modern public health format to reduce the risk of couples ever conceiving children afflicted with genetic disorders to begin with.

Many ultra-Orthodox Jews participate in the Dor Yeshorim program, which genetically screens the Jewish singles in these close-knit communities — without informing those tested of their results. Instead, the communities use traditional matchmaking services to ensure that only individuals whose genes could not potentially mingle in a dangerous way ever meet in the first place.

As reported in Tablet, while “Carriers of a recessive mutation for a disease are unaffected and perfectly healthy,” the program serves this specific community in an equally specific way: “Such stringent confidentiality is the by-product of a community’s longstanding stigmatization of not only the carriers of genetic diseases but also their families.”

“Because of [cultural] differences in the ultra-Orthodox community, the idea of doing this in a confidential and private way is much more appealing,” says Karen Litwack, LCSW and ACSM, Senior Advisor for National and Educational Initiatives with the Center for Jewish Genetics, a program Litwack describes as an educational and outreach program that seeks to create a “healthier and more informed [Jewish] community” by seeking to educate healthcare professionals, clergy, and particularly individuals of Jewish descent about the special, specific risks that apply to the Jewish community when it comes to genetic disorders.

When it comes to Dor Yeshorim, however, Litwack clarifies that since in these communities people only “date to get married” and often use a matchmaker anyway, the Dor Yeshorim program catches people at an early stage when people aren’t even dating yet or involved with one another, thus effectively “steering away [affected individuals] from people they’re not [genetically compatible with.”

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However, it is not only the ultra-Orthodox or even just Jews who should consider being screened for genetic disorders. And for the average carrier of a genetic disorder, many options exist beyond programs such as Dor Yeshorim, which limit potential mates to only the genetically compatible.

Clarifies Karen Grinzaid, MS, CGC, CCRC and the Senior Director of Outreach Initiatives at JScreen, a non-profit community-based public health initiative dedicated to preventing Jewish genetic disorders headquartered at Emory University School of Medicine in Atlanta, “I think a big misconception is that if you find out that you’re a couple who is at risk, that there’s nothing you can do — that someone is going to make a recommendation that you not get married or you not have children when in fact there are so many options available to that couple to help them have a healthy family.”

Only 2 percent of couples will end up carrying the same gene for the same genetic disease and be at risk. So the vast majority of the time, individuals and couples are going to walk away from genetic screening and counseling with reassurance that they will not have children at risk for these diseases. This is why genetic counseling is such a critical part of genetic testing, notes Grinzaid, since a genetic counselor not only makes sure a couple knows “what they’re being screened for, what it’s going to mean when their results come back, and then when their results do come back, to talk in detail about not only if their future pregnancies are at risk, but also about risks to the more extended family.” Being able to communicate to other family members their own potential risk of carrier status is a critical step in the management of inherited genetic disorders from a public health perspective.

There are presently “so many” more genetic disorders that can now be screened for, says Lisa Hasty, MD, a reproductive endocrinologist, infertility specialist and co-founder of the Atlanta Center for Reproductive Medicine. Conditions previously unknown that now have a name — and are caused by a single gene that we can test for.

“Things have changed a lot in the last three to four years,” Hasty explains, from the affordability of genetic testing to the range of identified disorders that can now be tested for to even the options available to couples who are both carriers for a shared disorder. “Any couple that comes to see us who is planning a family, we recommend a [genetic] screening,” she adds, noting that such testing is now oftentimes available even through a woman’s ob-gyn pre-conceptually — something “that’s different than it was five to ten years ago.”

Litwack concurs, adding, “ACOG [American Congress of Obstetrics and Gynecology] recommends that all Caucasians and people of Northern European descent be tested for cystic fibrosis” and that one of the biggest misconceptions regarding genetic testing is that only those of Jewish descent ought to be tested, noting that interfaith couples should absolutely be tested for Jewish genetic disorders and that all couples should be tested for wider panels of tests that are applicable to the larger, general population.

It’s important for all couples to be tested, Hasty says, regardless of ethnic background or family medical history since a person can “have no history in their family and still be a carrier.” Concurs Grinzaid, “I think the biggest misconception is that people think with a negative family history, they’re not at risk. Especially with recessive genetic disorders “where both parents have to be carriers, the vast majority of the time, it’s never shown up in the family before and people are taken by surprise.” And while Hasty clarifies that “screening is not perfect – it doesn’t pick up on every disorder known to human kind” it is still a critical step for those thinking of building a family biologically, especially since genetic disorders are “the leading cause of sudden infant death.”

And many options exist for couples like my husband and I who wish to grow a family but are both carriers for a like single-gene disorder such as Tay-Sachs or cystic fibrosis. “A couple can conceive without any treatment and then get early screening through ultrasound and amnio[centesis],” says Hasty. “Some people are just willing to roll the dice and accept that chance” that they may conceive of a child with a potentially fatal genetic disorder. For these couples, they then can elect to “raise an affected child or terminate the pregnancy” after early screening is done once a pregnancy is achieved. “That’s heart-wrenching, for both of those outcomes,” Hasty says.

However, that’s not the only available course of action. One long-time options for such couples is in vitro fertilization (IVF) using donor sperm or donor eggs and yet “the most common” means of family building for such couples presently is also the newest, a process known as IVF with PGD, or pre-implantation genetic diagnosis. Because “IVF with PGD is so successful,” Hasty says, “more and more, the people I meet with elect to go through” this form of testing embryos for genetic disorders before the embryos are even transferred to a woman’s uterus, thus ensuring that only those embryos not affected by the genetic disorder are possible candidates for pregnancy.

In February, British lawmakers ruled in favor of permitting yet another new advance in the use of IVF for those with genetic disorders, permitting mitochondrial donation from a third donor to be used with a biological set of parents’ own egg and sperm as a means of preventing mitochondrial disease. At this time, there is no known treatment for mitochondrial disease, so the advent of this new form of IVF, which uses biological material from three separate individuals to create one embryo, has the potential to be a groundbreaking action public health action to eradicate the devastating condition.

In regards to the already established practice of IVF with PGD, Hasty calls attention to the fact that while “a lot of people think that the success rates” for IVF with PGD are very low, “it’s in fact one of the highest success rates that we specialists do since other things are generally in good working order” in regards to the fertility of the couple. She notes that the currently available nationwide statistics on IVF treatment and success rates are looked at without the differentiation of those cases with PGD, something that will be changing in terms of regulations from infertility clinics on their IVF reporting procedures within the next few years. This new reporting will include a “break-down [of IVF with PGD success rates in terms of single-gene and aneuploidy,” or abnormal chromosome numbers present in any embryo, so that “people can have a clearer idea of how successful” this form of treatment is.

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