2009.09.28 – 350 residents receive results of PV testing


350 residents receive results of PV testing
No official word yet on JAK2 summary report

By DONALD R. SERFASS dserfass@tnonline.com
Reported on Monday, September 28, 2009

Despite recent media reports, there has been no official word about a summary report for testing for the JAK2 genetic marker. The marker is found among 90 percent of people with polycythemia vera.

The federal agency that conducted the testing over the summer has not issued results as of Sunday, although individual test results are now in the hands of those tested.

About 350 local residents have learned individually if their recent blood test results proved positive for the acquisition of a mutation found among those who suffer from the rare blood disorder known as polycythemia vera.

PV is characterized by a thickening of the blood and related complications.

Results have been mailed out to each person who took the test, a simple blood test coordinated by the federal Agency for Toxic Substances and Disease Registry (ATSDR) and the Pennsylvania Department of Health for residents over age 40 in Schuylkill, Carbon and Luzerne counties.

So far, there has been no summary report issued by the ATSDR. However, the agency is in discussion with other health agencies and concerned parties regarding the appropriate release of that information.

“They’re still trying to figure out how to get the word out,” said Joe Murphy, Hometown, a member of the Citizens Advisory Committee.

The testing was done almost two months ago and sought to identify those with a mutation called JAK2. The confusion about the possible release of test results began after a Hazleton-based oncologist spoke to a local media representative.

Media reports over the weekend suggested that new PV cases had been discovered, leading some to believe the JAK2 testing had uncovered new cases of PV or new clusters of the blood disorder.

However, geographic hot zones mentioned were actually ones already known, having been identified in 2008.

Among those are Ben Titus Road and a general area from Interstate 80 to Mahoning Valley or New Ringgold; northeast Carbon County near the Monroe County line; areas around Gilberton/Frackville; and an area around Cambria County in western Pennsylvania.

Murphy said a second round of JAK2 testing in October will include perhaps 1,100 or 1,200 more individuals.

Although the meaning of a positive test in someone who is well is not known, it is possible that people with the mutation may develop PV later in life. The ATSDR says that knowing this mutation is present may help health care providers to more closely monitor a patient’s blood count. But at this point there is no cure for PV, only treatment methods.

Murphy said the ATSDR will follow up with a program for those who test positive.

According to reports, the PV blood disorder has been found with alarming frequency in the region.

Statistically, it is expected to appear in one or two people per 100,000 population.

However, in one local neighborhood, multiple cases were found along one single street, including two cases in the same household. The cause is unknown.