Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia.

But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg, MD, an Israeli pediatric neurologist and Talmudic scholar at Jerusalem’s Shaare Zedek Medical Center.

“In the old days, the question was, ‘Is there enough water for everyone?’ Antibiotics, dialysis machines, ventilators for everyone?” Steinberg told 100 delegates attending the 2nd International Congress on Advanced Treatments in Rare Diseases, held March 4-5 in Vienna, Austria.

“We were quite successful in eradicating infectious diseases with antibiotics and vaccination,” Steinberg said in a keynote address. “Now, we live in a genetic era, where the purpose is to see if we can eradicate disastrous genetic diseases. But we have to go carefully because it can lead to unwanted consequences.”

Steinberg, praised by the journal The Lancetas a “leading light in faith-based medical ethics,” is the co-chair of Israel’s National Bioethics Council. The 71-year-old Orthodox rabbi also is associate clinical professor of medical ethics at Hebrew University-Hadassah Medical Schoolin Jerusalem, and winner of the prestigious 1999 Israel Prize for his seven-volume Encyclopedia of Jewish Medical Ethics.

Steinberg argued that modern medicine has brought about an enormous increase in life expectancy, and that people with serious chronic diseases, as well as disabled newborns, now can make it into adulthood with the help of very expensive therapies and medicines.

“We see many more people with serious diseases that just a decade ago would not have survived. All of them died, so it didn’t pose an added burden of treatment,” he said.

‘Genethics’ and tough choices

The ethics of genetics, a field some have dubbed “genethics,” frequently deals with difficult moral questions.

For example, if a woman knows she’s carrying a child affected by Tay-Sachs disease — an extremely rare fatal genetic disorder that strikes Ashkenazi (mainly European) Jews in much higher numbers than the general population — should she be allowed to abort the fetus? Most rabbis would say yes, as long as the abortion occurs within the first 40 days (others say the first trimester) of pregnancy.

Other problems arise, for instance, when a patient is diagnosed with a serious illness but refuses treatment, or another one has a terminal disease and wants to “die with dignity,” but his family opposes the decision.

From a societal point of view, however, perhaps the biggest ethical problem of all is one of equitable distribution. That, Steinberg said, means how to distribute healthcare when drugs for rare genetic illnesses, such as spinal muscular atrophyor Batten disease, can cost $700,000 a year.

“In an ideal world, there would be absolute equality. It’s the fundamental right of every citizen to receive every medical treatment that he deserves, according to his individual condition,” Steinberg said. “But in doing so, it will undoubtedly reduce the level of medical care for all citizens.”

The principle solution, he suggested, is “to create a clear, transparent and justifiable public policy of priorities. If we prioritize according to whatever transparent and clear policy, we can justify it — but there will always be people who unjustifiably are not treated.”

Any fair system must take into account the needy and less fortunate in society — particularly “weak groups who don’t have big lobbies or political power,” he said.

Solving the dilemma

“We try to teach our medical students to think economically,” Steinberg said. “If we have the option of lifesaving versus life prolonging, it seems lifesaving should take priority. But in many instances, the prolongation of life for an individual might be as important as saving the life of another one.”

If two treatments are equally effective, but one is cheap and the other expensive, “everyone understands that you should go for the cheap,” said Steinberg, though he emphasized that the lives of rare disease patients are just as important as people with diabetes or hypertension.

“Creating medications for very small markets is very costly. Yet the fact that it involves a small group of people does not reduce the ethical obligation to treat them,” he said. “On the other hand, when resources are scarce, there is no ethical justification to deny effective treatment from the many, just because the few are consuming large benefits.”

One solution, Steinberg suggested, is to encourage governments to reduce the cost of medicines by offering pharmaceutical companies incentives like tax breaks, longer periods of patent protection, and a speedier approval process. Through special legislation, governments also could allocate funds for rare disease research.

“But none of this takes away the moral obligation upon drug companies to participate in saving lives,” he concluded. “They should look to make money somewhere else, rather than at the expense of rare disease patients, who are usually a weak part of society.”