It was 1963 when Dr. Stephen Lefrak had to undergo one of the most unpleasant parts of his medical training. It took place in a darkened room with about 30 cribs at a Brooklyn, N.Y. hospital.

“They had a whole roomful of these kids with Tay-Sachs who were all kept in the dark because they seize,” said Lefrak, now a professor of medicine at Washington University. “It was actually one of the most horrible experiences of my medical career to go into that room.

“I couldn’t wait to get out of there,” he added.

Unfortunately, for Tay-Sachs sufferers, there is only one way out. The disorder, which often begins in infancy and has no cure, kills most of its victims by age 4 at which point voluntary motor skills have usually given way totally to seizures and paralysis. By the end, the child is often blind, deaf and unresponsive.

The horrors of Tay-Sachs can be credited to a single missing enzyme traced to a defective gene on the 15^th chromosome of humanity’s DNA recipe. Yet for Ashkenazi Jews, Tay-Sachs is a well-known enemy. About one in every 3,600 Ashkenazi babies will develop the deadly illness, which is carried by as many as one in every 25 to 30 members of the community, a rate roughly 10 times that of non-Jews. 

But while Tay-Sachs may have a high profile in the Jewish community, it is far from the only genetic disorder to which Jews are vulnerable. Moreover, despite the explosion of genetic testing technology in recent years, there are concerns that many Jewish couples don’t always understand the importance of being tested and the medical community may not always make their options clear in a rapidly evolving field of medical study that continues to present challenges on issues from ethics to insurance.

‘Knowledge is power’

The Center for Jewish Genetics in Chicago lists as many as 19 genetic disorders that impact Ashkenazi Jews. Five others impact those of Sephardic descent. Some, like familial hyperinsulinism, are manageable and allow for a normal life span. Others, like Tay-Sachs are crippling and severely shorten a youngster’s life. But while genetic disorders can’t be cured, the center stresses that they can be prevented.

“It is one of those very few times in life when you can look into a crystal ball and completely avoid something that can be devastating to you and your family,” said the center’s assistant director Taryn Gluskin.

The main drive of Gluskin’s organization is to ensure that that crystal ball is available at a reasonable price. A full panel of genetic tests for Ashkenazi disorders can run into the thousands of dollars but the center offers it for $199.

Gluskin said the center’s mission is to ensure every Jew thinking of starting a family has the opportunity to take a test. That mission has been expanding in a way that exemplifies the radical advances that have come to define the field. The center originally offered tests for three diseases. Now, it offers 19.

Still, the complex question of precisely what one does with the information remains and the answer can depend a great deal on the disease in question. Not all disorders are as horrifying as Tay-Sachs. Some, like Gaucher disease, are very livable with proper treatment.

“If you know ahead of time, that gives you nine months to prepare,” said Gluskin, “to make sure you’ll have your child on the right treatment plan, be set up with the right doctors and have your family prepared.”

Regrettably however, other options tend to be either personally painful or financially difficult. Since many of the problematic genes are recessive, couples can play the odds. Even if both parents have the Tay-Sachs gene, the child’s chance of having the disease is one in four. 

“Some choose to just take the risk because they still have a 75 percent chance to have a normal pregnancy and a child who is not affected,” said Aishwarya Arjunan, a genetic counselor at the center. 

However, in such cases, bad news typically results in a termination of the pregnancy.

Couples with heftier financial resources can use pre-implantation genetic diagnosis, which is an in vitro fertilization procedure that guarantees a healthy embryo is implanted in the mother. Still others avoid the question of genetics all together and opt for adoption.

“Our goal is to make sure people are educated, that they go in and have that knowledge,” said Arjunan. “They are not surprised at the end of the pregnancy.”

And surprises can happen. Sometimes people can identify a family history associated with a genetic disease. That’s particularly true with dominant genes, said Jennifer Ivanovich, a genetic counselor at Washington University who focuses her work on genes related to cancer. 

“You are going to determine what to test for based on a person’s family history,” said Ivanovich.

But with recessive genes like Tay-Sachs and other Ashkenazi diseases, a different approach is taken since a trait can hide through multiple generations until it finds a match, a process that could take hundreds of years. In such cases, there may be no family history.

“That doesn’t mean that through the generations you haven’t been passing on a carrier status and your family members haven’t married someone who carried the same disorder,” Gluskin said.

That’s why everyone who is Ashkenazi should be tested for such genes, she says. 

 “We’re in the business of knowledge is power,” Gluskin said. “Being able to tell people ahead of time as they are going into a pregnancy what might be around the bend is very empowering.”

‘What do you do about it?’

Yet, in a sense, empowerment is also becoming a part of the problem. New technology has democratized the once-remote field of genetics in a way hardly imaged decades ago. Thanks to commercial services, such as 23andMe or easyDNA, individuals can literally test themselves, sending away a DNA sample and waiting to receive a full report back from the company. Until recently, those reports included information on health risks but a recent directive by the Food and Drug Administration has ended or altered that practice. Some companies left the market. 23andMe continues to offer genetic tests but not for health purposes. EasyDNA still provides that service, but only if the samples are collected by a doctor.

These sorts of do-it-yourself testing services have long raised concern among genetic counselors who believe that individuals should not simply be fed raw information without professional input regarding its meaning and accuracy.

Chicago area attorney and bioethicist Nanette Elster, who sits on the Jewish genetic center’s board, notes that there is a danger here.

“The information is difficult to interpret to begin with. Mainly, we’re talking about predispositions,” she said. “People could be making major life decisions based on potentially misinterpreted results if they are not clear on them.”

Some home-based services are making an effort to incorporate professional assistance. Run out of Emory University in Atlanta, JScreen is a specialized mail-away style not-for-profit genetics tester that focuses on 19 Ashkenazi diseases. But the program does provide phone or video conferencing follow-up with a genetic counselor to discuss results that come back positive. It can even provide referrals for face-to-face interactions with professionals in the patient’s area.

Elster said it sometimes can be tricky to understand what can be done with the knowledge gained from a genetics test. For instance, the fatal ailment Huntington’s disease can be tested for, but modern science can do little more than inform the patient of a death sentence.

“There’s nothing that can be done. There is no treatment, no cure,” she said. “Some people would rather know. They want to make life plans.”

But while some may want to know, they may not wish to share it with family. That’s a legitimate decision from a privacy standpoint but can create an ugly ethical dilemma for a doctor who may be treating other family members. The doctor may know these members are at risk for a genetic problem but cannot revealed that to them.

“If you learn information about yourself, it could impact your parents, it could impact your kids,” Elster said. “It could impact your siblings and beyond.”

Some may also fear discrimination if the information gets out. Elster said that some legislation has been passed on questions related to the topic. But while 2008’s Genetic Information Nondiscrimination Act (GINA) prohibits discrimination in health insurance and employment, it still leaves open other possibilities, many of which have not been addressed by the states.

“Outside the state of California, there is really no protection against using this information in things like life insurance, long-term care insurance, disability insurance,” she said.

Dr. Ira Kodner is a colorectal surgeon and emeritus professor of surgery at Washington University and Director of the Center for the Study of Ethics and Human Values. He said that even when it comes to health insurance, patients are still skittish. He has run across those who won’t get tested for fear of losing their employability or having riders attached to their policy. Even if they might win a legal battle, no one wants to fight an insurance company or employer.

Yet, he believes that insurers are looking at the issue the wrong way. For instance, finding a predisposition for colon cancer could simply mean targeting earlier colonoscopies, which prevent the problem.

“Instead of increasing their insurance rate and the person being penalized, the insurance industry could learn that if we keep these people under close surveillance, they won’t develop advanced disease and that’s what’s most expensive,” he said. “But that is too sophisticated right now for the insurance industry to pick up on.” 

Kodner says he won’t even order a genetic test until it is decided what will be done with the results. That’s better for the patient and keeps the doctor out of those sticky ethical quandaries. 

“If the patient says after the test turns out to be positive, ‘I don’t want you to tell my family about it,’ then that puts the physician in a very serious situation because you know half of his kids are going to get colon cancer and he doesn’t want to tell them that they need testing,” he said. “My way of handling this is never to even obtain the test unless you have met with a genetics counselor who knows what the risk is, can explain what the risk is and you decide in advance what you do with the information.”

He said that ensures patients comprehend what they are finding out and whether they really want to know — advantages they don’t have with a home-test kit.

The genetic lottery

Cantor Sharon Nathanson at Congregation B’nai Amoona feels everyone should work harder to create a more in-depth understanding of the issue. It’s a thought she shared with her congregation during a recent Shabbat service dedicated to the issue of Jewish genetic disorders.

“I am amazed by the number of young people who are advised by doctors or genetic counselors that they don’t need testing,” Nathanson told the congregation. “I hear stories that they have been told, ‘The testing companies are just trying to get your money’ or ‘No one really gets those diseases.’  I have even heard, ‘My dad is a doctor, so I don’t need to get tested.’”

For Nathanson, the issue of genetic disorders is an important one. Her five-year-old son, Zachary, has familial dysautonomia, a degenerative dysfunction of the autonomic nervous system that can cause a wide variety of symptoms from pain insensitivity to unstable blood pressure. Unfortunately, the disease can significantly shorten the lifespan. Still, Nathanson is grateful for advances in treatment.

“There didn’t used to be an adult population at all and now there is,” she said in an interview with the Jewish Light. “In the 1970s, if you were born with this, they expected you to live five years.”

She encourages members of the community to be proactive, study the issue and get the testing done.

“Unless you know exactly what you need and you say this is what I want and you follow up with it, you aren’t going to get what you want,” she said.

She also notes that it is important to be tested at regular intervals since the technology for finding new genetic markers is always advancing.

“You have to get retested and make sure you are up-to-date between children,” she said.

Sometimes the news from those tests can be positive. Caroline Koenig Goldenberg said her rabbi advised her and her future husband, Etai, to get tested. 

“We talked about it and we decided that we weren’t going to do it before we got married because we felt like symbolically we were committed to each other either way,” said the 30-year-old University City resident and Jewish Light trustee.

But they did want to be tested before having children. Both came back negative for any problems and their son Leo is doing fine at 17 months.

Yet, the family of a relative of Goldenberg had a different experience. The first that couple had heard of genetic testing was from the obstetrician after they had conceived.

“They looked at [the doctor] like what are you talking about,” Goldenberg said. “It came back that they were both cystic fibrosis carriers so she spent the whole second half of her pregnancy terrified that they had a baby with CF.”

The baby, however, turned out fine. In fact, he wasn’t even a carrier.

“He won the genetic lottery,” Goldenberg said.

When it comes to who picks up the bill, insurance company policies vary widely. They may or may not cover genetic testing during a pregnancy but many do not cover it at all beforehand. In Goldenberg’s case, getting her husband tested was difficult since the insurance company said it was unnecessary.

“Because my panel was negative, we had a really hard time with the insurance company getting his panel approved,” she said. “That was painful.”

When testing isn’t covered until after a child is conceived, the decisions can be even more painful.

“When your insurance company tells you your options, it is not so easy just to abort a baby if the genetics aren’t right,” she said.

The idea made Goldenberg hesitant about testing altogether though she knew it was right for her. What if she got pregnant and then had to make a decision on whether to terminate?

“I wasn’t sure that I had the stomach to deal with something like that,” she said.

Painful choices

For Rabbi Aaron Melman, however, that decision became a reality. Two of his wife’s four pregnancies ended in termination because the children would have had Tay-Sachs.

“It’s a painful decision and dealing with it after the fact is very painful,” said Melman of Congregation Beth Shalom outside of Chicago. “When the due date comes around where you know that child would have been born…that takes an emotional toll on you. There’s no question.”

But Melman, who sits on the board of the Center for Jewish Genetics, said there is also no question that the choice was the proper one.

“The Jewish legal sources across the board from the far left to the far right are all in agreement that these are pregnancies that you don’t carry to full term,” he said.

In one sense, Melman’s choice is indicative of others who have the same dilemma. Many can’t afford in vitro fertilization.

“Although things may have changed somewhat today, when we were having kids, IVF wasn’t covered by insurance,” he said. “Now you are going to put out $10 or $12,000 or whatever it was for something that may or may not work. That’s money we didn’t have.”

Locally, Rabbi Ze’ev Smason of Nusach Hari B’nai Zion, said that although abortion is prohibited under Jewish law, it is permitted in some instances such as when the mother’s health is at issue. That indicates that Jewish law has some flexibility in weighing the context of a pregnancy, he says.

“We are dealing with the challenge of applying longstanding principles, guidelines and laws in the Torah and trying to understand how to adapt them to new innovations, inventions and technology,” Smason said, noting that concepts like in vitro fertilization and genetic testing can be a challenge to understand in light of laws that date back thousands of years. “You have the principles that are there but taking those principles and applying them to new technology is a real challenge and requires a lot of serious deliberation.”

Another genetics center board member, Sarah Leibov, recalls her own personal experience with Tay-Sachs. Her half-sister Mindy had the disorder. 

“After watching someone die such a horrible death, abortion is something that would have to be considered,” she said.

That’s why she’s a proponent of testing.

“I don’t want anybody to go through what we went through because what we went through was completely unnecessary,” she said.

She remembers the girl having terrible seizures until her death at age 3.

“She had to be tube-fed. She was motionless all the time other than when her little body was wracked with seizures,” she said. “It was a nightmare for our family.”

Despite her family history, Leibov, who is not a carrier, said she had to pay for her testing out-of-pocket. Insurance wouldn’t cover the $2,000 in charges. She did not know about the genetic center’s services at the time.

Leibov said that one of the great ironies of Tay-Sachs is that testing for the disorder may be a victim of its own success. Many don’t worry about it much anymore. That’s particularly true of intermarried Jews who believe their children are safe because their partner isn’t Jewish.  In fact, the gene exists outside the Ashkenazi Jewish community as well.  Carriers are equally common in non-Jewish French-Canadian and Cajun populations and higher among Irish populations, and the rate is about one in 250 to 300 among the general population, according to the World Health Organization. The disease in babies born to intermarried couples is increasing because these couples test less often.

“They think, ‘oh, well, we don’t need to get testing’ but those are the people who need it the most,” Leibov said. “No one truly knows where their background is. No one is safe from genetic diseases.

“Those genes are still out there,” she said.