Israel's Health Ministry Plans New Disease Detection Tests for Infants

Health Ministry considers adding cystic fibrosis and SCID to early detection tests list.

The Health Ministry is looking into adding two new diseases to the list of illnesses for which early detection tests are done on infants.

The new diseases that a special ministry committee is considering adding are cystic fibrosis and SCID (severe combined immunodeficiency).

A new ministry report reveals that in recent years, about 130 babies a year have been diagnosed with serious diseases. This number has increased since 2009, in part because hospitals now test for more diseases than before in the blood tests taken shortly after birth.

There also has been an increase in diagnoses of hypothyroidism - which isn't life-threatening, but which can cause developmental delays if not treated promptly. In 2009, 59 babies were diagnosed with the disease. But the figure rose to 96 in 2010 and 113 in 2011, an increase of 91 percent in two years.

Prof. Joel Zlotogora, head of the Health Ministry's community genetics department, said other Western countries are also experiencing a rise in genetic disease, "and the reason isn't clear." America's Center for Disease Control, for instance, has recorded a 30.4 percent increase in hypothyroidism over the last decade.

Altogether, 506,759 babies were born in Israel in 2009-2011. Of these, aside from the hypothyroid babies, 117 were diagnosed with some other kind of metabolic disease. These included 21 with phenylketonuria, which can cause developmental delays if untreated, and 11 with MCAD, which causes sudden death in about one-third of the babies who have it.

To diagnose such diseases, blood samples are taken from all babies 48 to 72 hours after birth, except in a few cases where the parents refuse (there were 170 such cases in 2011 ). Babies that test positive for certain diseases are then sent for further testing, since blood tests sometimes produce false positives.

Different countries test for different genetic diseases. Since 2009, Israel has tested for 11 diseases. That is more than Britain (7 ), France (5 ) or Switzerland (3 ), but less than Denmark and Germany (15 ), Holland (20 ), Hungary and Portugal (25 ) or the United States (29 ).

Now, however, a special Health Ministry committee is considering adding cystic fibrosis and SCID to Israel's list. Cystic fibrosis, which currently afflicts some 500 Israelis, can be ameliorated by early treatment. SCID, a disease found in one out of every 100,000 children, can, if diagnosed early, be treated by a bone marrow transplant before serious infections have time to develop.

If the committee decides to add these tests, the ministry will ask the so-called "health basket committee," which approves the addition of new treatments to the national health insurance program, to authorize funding for the new tests next year.