Highmark to begin coverage for genetic screening in 2013

Highmark to begin coverage for genetic screening in 2013

Highmark, Inc. will be changing its medical policy in January 2013 to provide insurance coverage for pre-conception genetic tests for Ashkenazi Jews between the ages of 18 and 29.

Most other large insurers in American cities the size of Pittsburgh have been covering these tests for years, according to Dr. Arnold Cohen, chairman of obstetrics and gynecology at the Einstein Medical Center in Philadelphia, and chairman of the national advisory board of the Victor Center for Jewish Genetic Diseases, which provides genetic education, screening and counseling services at various cities throughout the country.

The screenings can determine whether an individual is a carrier for any of the 19 genetic diseases prevalent among Ashkenazi Jews.

“Highmark has to be congratulated for listening to us, and acting appropriately,” said Cohen, who was instrumental in bringing the importance of the tests to the attention of Highmark officials.

About one in every four Ashkenazi Jews are “healthy carriers” of a genetic disease, meaning they show no symptoms of the disease. But if two carriers of the same Jewish genetic disease decide to have children, each child conceived by that couple has a 25 percent chance of being affected by the disease. If a couple knows they are both carriers, they can undergo genetic counseling before starting their family, and consider options such as adoption, in vitro fertilization and sperm or egg donation.

The change in Highmark’s policy is the culmination of a local three-year effort led by Dodie Roskies to increase awareness of the value of these screenings among both young Jews and the large insurers.

Roskies, in conjunction with the Victor Center, has been working with Highmark for three years. In 2010, the Highmark Foundation awarded a two-year community grant in partnership with the Hillel JUC “to build awareness and test young people for the 19 genetic diseases found more commonly in the Ashkenazi Jewish community,” Roskies said in an email to the Chronicle.

About 340 young Jews were voluntarily tested during subsidized screenings held in Pittsburgh in the last two years as part of the Highmark Foundation grant. Of those 340, about 85 were found to be carriers of at least one Jewish genetic disease.

“Our results, the high cost of laboratory testing, the lack of benefit coverage by all the large insurers in western Pennsylvania, and with persuasion by the Victor Center leadership to examine the greater good of its insured, resulted in Highmark’s decision to cover the testing of these diseases as of January 1, 2013,” Roskies said.

The identified diseases which occur disproportionately in Ashkenazi Jews include: Gaucher; Cystic Fibrosis; Tay-Sachs; Familial Dysautonomia; Canavan Disease; Niemann-Pick (Type A); Fanconi Anemia (Group C); Mucolipidosis IV; Bloom Syndrome; Dihydrolipoamide Ddehydrogenase Deficiency; Familial Hyperinsulinism; Joubert syndrome; Nemaline myopathy; Spinal Muscular Atrophy; Usher Syndrome Type 1F; Usher Syndrome Type III; Glycogen Storage Disease, Type 1A and; Maple Syrup Urine Disease.

The key to reaping the most benefit from genetic screening is the timing of that screening, according to Dr. Debbie Rubinstein, physician advisor at Highmark, Inc.

“In terms or timing, it is always best to do this prior to planning a pregnancy so you can understand your options,” she said. “Many of these diseases are devastating, and result in early death, or significant disability of different types, depending on the disease.”

Discovering one is a carrier of a genetic disease becomes much more difficult once a baby is conceived, said the Victor Center’s Cohen, who has been an obstetrician for 40 years.

“The worst thing in the world is for a woman to find out there’s something wrong once she is pregnant,” he said. “That is why, as an obstetrician, I am so in favor of pre-conception screening.”

That Highmark, Inc. has decided to cover these genetic screenings is a victory for Jewish health care advocates who urge all young Jews to get screened before they try to have children. When not covered by insurance, testing for the full panel of Jewish genetic diseases runs about $4,000 a person.

“This decision is remarkable,” Roskies said, “in that it is testing for asymptomatic — that is, you and your family members do not exhibit symptoms of the disease — pre-conception testing. We hope this is an example other insurers will follow, and other ethnic groups will examine.”

Representatives speaking on behalf of Pittsburgh’s other big health insurer, the UPMC Health Plan, say it has been providing coverage for asymptomatic, pre-conception screening for all 19 diseases in the Ashkenazi Jewish population for the last two years, according to its director of public relations and community relations, Gina Pferdehirt.  

“UPMC Health Plan has been covering these tests for two years and we have had no issues to date and no appeals,” said Dr. Stephen Perkins, vice president of medical affairs for UPMC Health Plan in an email to the Chronicle.  “UPMC Health Plan will continue to review individual cases as well as review individual diseases and write appropriate screening policies as necessary. We are pleased to see other companies join us in a wider acceptance of coverage for these screenings in our region. It is important that anyone of Ashkenazi Jewish heritage who wants to start or add to a family know their carrier status.”

Debby Hirshman, national director of the Victor Center, said that the Pittsburgh Victor Center Partnership “is looking forward to working with the UPMC Health Plan on these screenings.”

(Toby Tabachnick can be reached at tobyt@thejewishchronicle.net.)

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