March 14, 2004

Dr. Stavit Shalev: “What started out as a pilot program, has now reached the point where we are serving over 2,800 families a year.”An Israeli physician is leading the battle against debilitating genetic diseases in local Arab communities, by creating a unique outreach program that has garnered the support of village elders and Islamic leaders alike.

And in another parallel project, Arab infants born with Pompe disease, a genetic disorder with relatively high incidence among the Israeli Arab population will be among the first in the world with access to a new drug.

Various dreaded afflictions that have decimated certain ethnic groups are well known in scientific circles. Tay-Sachs disease is a fatal genetic malady found in many Eastern European Jewish families, as a result of prolonged inbreeding. Sickle cell anemia is the genetic scourge found within many African-American families. While these two aforementioned maladies have been significantly controlled via aggressive genetic counseling and testing at various medical institutions in the Western hemisphere, the Arab world is still plagued by a whole host of genetic diseases, including sickle cell anemia.

Ten years ago, Dr. Stavit Shalev, Director of the Institute of Genetics at Emek Medical Center in the Galilee, conceived a revolutionary outreach program in various local Arab villages to try and arrest these debilitating diseases before they could destroy a family clan.

Until Shalev’s program was slowly adopted in these villages (near Nazareth), there had been few if any forms of pre-marital or marital counseling for Arab couples, especially those who followed a strict interpretation of the Islamic faith. Based on a combination of trust and adherence to Islamic principles, Shalev’s program has succeeded beyond expectations. In fact, based on the results she has achieved, Shalev hopes that someday many Arab countries in the Middle East might adopt these progressive healthcare methods.

“These are very unique patients with their own brand of traditions and culture, with a very strong prevalence of marriages within their own clan. Many young couples who have come to us for counseling don’t even realize that they are closely related,” Shalev explained.

According to Shalev’s statistics for villages in northeastern Israel, 24% of Arab men marry their first cousins, 9% second cousins and 13% third cousins. This obviously increases the chances for genetic defects among these closely related couples.

“The congenital malformation rate in these groups is 6-9% which is among the highest in the world. In the Western world the rate is only 3%, so there are lots of potential consequences to deal with here, especially recessive and chronic disorders-sickle cell anemia, cystic fibrosis etc.,” Shalev pointed out.

According to Shalev, the basic idea of the outreach program is to educate without stigma.

“I’m aware of my limitations of understanding cultural issues and traditions. My first aim has always been not to harm, because the most sensitive issue in Arab society is marriage,” Shalev said. “My job is not to harm these people, which is why we avoid doing genetic testing before a woman decides to get married. We never want to see a woman get ‘labeled’ if she may be a carrier of a potential genetic defect.”

Because Shalev is especially aware of the tenets of the Islamic faith, she is highly sensitive to what is permissible and what is forbidden when it comes to the issue of abortion.

“What we’ve done is truly promising. Once a couple gets married and the wife becomes pregnant we urge the village leaders to have the couple come in for genetic counseling,” Shalev claimed. “We ask many questions about their respective backgrounds which helps us profile a village and screen its local population. We then ask to take a blood sample especially prior to a woman’s first pregnancy. If she is found to be a carrier, then we ask the husband for a blood sample. If both are found to be carriers of the same defective gene, the couple is told that there is about a 25% chance of having a defective child. Then the couple have serious decisions to make based on their adherence to the Islamic faith.”

Shalev displayed a copy of a fatwa (an Islamic religious decision) signed by a prominent Islamic leader from Jerusalem, which clearly states that a woman could abort a defective fetus within the first 119 days of her pregnancy.

“According to Islamic law, the soul emerges after 120 days, which is what I show many couples who are having a hard time making a decision. Those who hold strict interpretations of the Koran, well they won’t do anything, but those who are moderately religious are more open to early intervention,” Shalev reported.

The results of Shalev’s program have been felt in the communities affected. “Because of our outreach program to these local communities, we’ve witnessed dramatic reductions in the incidence of certain genetic diseases,” Shalev said.

And word is spreading to other Arab villages and towns. “We keep productive relationships with the clinics in Arab villages and offer friendly educational outreach services. What started out as a pilot program, has now reached the point where we are serving over 2,800 families a year. You can say that we are flooded,” said Shalev.

A half hour north of Afula’s Emek Medical Center, another project is taking place that also relates to the genetic diseases endemic to the local Arab population in Israel.

At Rambam Hospital in Haifa, a worried Israeli-Arab couple recently brought their newborn baby to the emergency room. The infant was weak and had trouble holding up his head. After conducting a blood test, the doctors determined that the baby had one of the most devastating of genetic disorders – Pompe disease.

The young child was unwell because his body was unable to produce a vital enzyme (acid maltase) and glycogen was building up in his body`s
cells, damaging muscles. With no approved treatment available for the child, the disease could be expected to progress rapidly and the child to die of heart failure and respiratory weakness before his first birthday.

But, says Oved Amitay of Genzyme Israel, there is a good chance that this child will lead a normal life. “He is the third Israeli infant to be enrolled in a global clinical trial that we are conducting using a new drug that Genzyme is developing.”

Speaking at a recent workshop on Orphan Drugs in Tel Aviv sponsored by BioData, Amitay cautioned that not all of the infants that have received the new treatment have responded to the drug and that only after the company completes the study will it be possible for the drug to be approved by regulatory agencies and made available to patients on a routine basis.

“But the inclusion of Israel in the clinical study is a clear illustration of Genzyme’s company philosophy,” says Amitay. “We try to
have a direct presence in every country where we market drugs and hire local people who can identify local needs.”

In the case of Israel, this has led Genzyme to include Israeli patients in global clinical trials that gain patients early access to new
treatments, to support academic research and to invest in the local biotech industry. “The fact that the Haifa Pompe patient is an Israeli Arab also is not a coincidence,” adds Amitay.

“Pompe is a rare disease, so the company originally planned to carry out the clinical trial at medical centers in the US and Europe where there would be access to a relatively large patient pool, as well as in Taiwan
where there was known to be a higher-than-average rate of incidence. However after conducting a historical data analysis study requested by the FDA, we discovered that there was also a higher-than-average rate of incidence among the Arab and Druze populations.”

This information helped the staff at Genzyme Israel to convince company management that Israel, with medical centers that provide advanced diagnostic capabilities and with access to Arab and Druze populations, be included in the trial.

Genzyme established its Israel branch in 1994, becoming the first American biotech company to do so. The opportunity to conduct clinical
trials in Israel, where advanced medical centers and large numbers of ethnic groups can be accessed in a small geographical setting, were factors in Genzyme’s decision to set up an Israeli office.

(Based on reports by Kenneth Stephens and BioIsrael)

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