Today, Senator Arlen Specter (D-Pa.) made the following statement after the release of the latest study on Polycythemia Vera (PV) in northeastern Pennsylvania. Senator Specter secured $5.5 million in federal funding to fully investigate the cancer cluster, a portion of which was used for this study.
"The incidence of the mutation in the population certainly calls for further study," Senator Specter said. "The community is understandably very concerned about the problem and they're entitled to the best answers science can give them. I urge ATSDR to act promptly on the next step of the study, and I am pleased that the federal government has the proper resources and intentions to conduct a thorough investigation."
In March, Senator Specter secured $5.5 million in federal funding to study the cancer cluster in the Carbon, Luzerne and Schuylkill tri-county region. The study marks the first time the federal government has funded a project of such magnitude. The Centers for Disease Control and Prevention (CDC) received $5 million to conduct assessments of PV trends and associated risk factors, including potential environmental risk factors. Additionally, Drexel University's School of Public Health in Philadelphia received $499,000 to conduct studies of the rare blood disease.
Senator Specter has aggressively advocated for federal support to examine the higher than usual incidence of PV in the region. He participated in the October 2006 announcement of the initial study, a statistical analysis of regional health data by the Pennsylvania Department of Health and the CDC. In October 2008 Senator Specter convened a meeting in Hazleton, PA with community members and officials who have been directly involved with the blood disorder.
The genetic screenings were conducted by the federal Agency for Toxic Substances and Disease Registry (ATSDR) in partnership with the Pennsylvania Department of Health and Mt. Sinai School of Medicine. Following two rounds of community health screenings for the JAK2 genetic marker, 19 (1.6%) of the 1,170 people tested were found to have this mutation. This is the first time a large scale screening for this JAK2 genetic mutation has been done in the United States and the frequency of the mutation in the general population is not known.
According to ATSDR, since the JAK2 genetic marker was identified in 2004, studies have shown that this mutation is present in more than 90 percent of patients with PV. Scientists do not yet know whether the mutation occurs in otherwise healthy people.
ATSDR will continue to study this information in concert with the Geisinger Health System -- using remaining funds from Senator Specter's appropriation - to determine how commonly the JAK2 mutation occurs in the general population outside the tri-county area.