2010.05.12 – Fed study finds more with gene mutation


2010.05.12 – Fed study finds more with gene mutation

Published: May 12, 2010
A federal public health agency on Tuesday released its final report on a blood screening conducted last year to detect genetic evidence of a rare blood cancer in Luzerne, Schuylkill and Carbon counties.

According to the Agency for Toxic Substances and Disease Registry, 1,170 residents of the tri-county area volunteered to have their blood tested. Nineteen of the citizens were found to have the JAK2 genetic mutation, which medical researchers say is present in 95 percent of polycythemia vera patients.

The ATSDR launched the community blood screening late last year in partnership with the Pennsylvania Department of Health and Mount Sinai School of Medicine in response to an earlier study that confirmed a statistically significant cluster of blood disorders near the nexus of Luzerne, Schuylkill and Carbon counties near Ben Titus Road in Rush Township.

The statistical cluster was affirmed in October 2007 when the ATSDR confirmed 38 cases of PV in the tri-county area.

Following the discovery, public health officials sought to document the occurrence of JAK2 in a broader sampling of the local population. To accomplish this, the agency advertised an invitation to all current residents of Luzerne, Schuylkill or Carbon counties to participate in a public health screening.

In the first round of screenings, which were held in August, blood samples were obtained from 356 participants. In the second round of screenings in October and November, samples were collected from 814 citizens.

The 19 citizens who tested positive for the JAK2 mutation were offered a referral for a free medical evaluation at Geisinger Health System. The ATSDR advises JAK2 positive individuals to have periodic evaluations to monitor for possible disease onset or progression.

Many of the participants with a positive JAK2 test lived in the previously identified PV cluster area, which was the ATSDR’s target area for the screening efforts.

According to the ATSDR, scientists will use data garnered through the screenings to further study the genetic mutation and its connection to PV.

Scientists do not know how prevalent the mutation is in the general population, whether everyone who has the mutation will develop PV or a related blood disease or whether the mutation occurs in otherwise healthy people. To help answer these questions, ATSDR is supporting work to determine how commonly the JAK2 mutation occurs in the general population inside and outside the tri-county area.

The ATSDR said it is prudent health policy to consider JAK2 positive individuals to be at increased risk for developing PV or other blood and bone marrow diseases. Therefore, the JAK2 positive individuals are encouraged to undergo periodic medical evaluations to monitor for possible disease onset or progression. Early diagnosis and treatment of PV may improve the patient’s quality of life and reduce the risk of life-threatening complications, the report said.

JAK2-positive individuals are also encouraged to participate in an ongoing study at Geisinger medical facilities that will follow the individuals over time to help scientists learn more about the progression of the disease and help determine if everyone with the mutation goes on to develop the blood disorder.

The local public health screening was the first time a large scale screening for the JAK2 genetic mutation has been done in the United States.

In its final report on the screening effort, the ATSDR said that hundreds of suspected cancer clusters are reported to state and federal public health agencies each year, the majority of which are evaluated and resolved quickly because they include a wide range of cancers, involve a small number of reported cases, lack potential exposure sources or exposure data, or because the occurrence of cases is within a normal range for the country.

The ATSDR said the local cluster investigation is unique in that it has the full support of both federal (ATSDR) and state (Department of Health) public health agencies and is being supported by significant financial and technical resources.

“This support is rare in cancer cluster studies and allows for a comprehensive research portfolio that will, regardless of whether the specific cause of the cluster can be determined, result in benefits to local residents (as well as) cancer patients elsewhere and the medical research community,” the final report says. “Also, even if environmental agents cannot be linked to the PV cluster, the enhanced evaluations may result in additional clean-up or regulatory actions and improvements in local environmental quality.”

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