2007.03.05 – 50 from Schuylkill and Luzerne who have blood illness get DNA test Scientists want a full inquiry into cases
From The Morning Call Inc., Copyright 2007
By Chris Parker
March 5, 2007
Fifty Schuylkill and Luzerne county residents diagnosed with a rare blood disease many believe is linked to chemicals from a former industrial site have been given a new test that shows whether they harbor a genetic marker for the illness.
The DNA test is part of a study by the Agency for Toxic Substances and Disease Registry, an arm of the U.S. Department of Health and Human Services.
Scientists hope it will help determine the scope — and eventually the cause — of a cluster of diagnoses of polycythemia vera, a disease in which bone marrow produces more blood cells than the body needs. It may lead to leukemia, stroke or heart attack.
That cluster includes residents of Ben Titus Road in Rush Township, where community activists have suggested the nearby Still Creek Reservoir, which provides water to Tamaqua, may have been contaminated by the former McAdoo Associates, a metal reclamation and incineration facility that has become a federal Superfund site.
Testing has indicated the water in the reservoir and in nearby wells is safe.
The state Health Department in 2001 began requiring doctors to report cases of polycythemia vera, which develops slowly. As part of the study, the registry has interviewed 50 of those identified with the disease, research toxicologist Vincent Seaman said.
The interviews include three people who live on Ben Titus Road.
About 90 percent of those interviewed have agreed to the DNA test, Seaman said.
”It’s free. It’s a great thing for them because this is a test that is not normally covered by insurance,” Seaman said. ”It would cost about $700 to $900 if you have it done yourself.”
The laboratory doing the testing will send all the results at once, he said.
”We ask [the people] if they have a physician they want results reported to,” Seaman said. ”We prefer to give them to the physician” to explain them to people.
”Ninety percent of people with polycythemia vera have the genetic marker,” Seaman said. ”That would pretty much cement the diagnosis.”
But the absence of the marker doesn’t mean they don’t have the disease. If they have been diagnosed and don’t have it, the doctor may want to order more tests.
There are 98 people in Pennsylvania confirmed to have the disease, Seaman said. But the agency has been able to find only some of those people since the study began in October. About 30 have moved away or died, and 15 have refused to participate in the study, he said.
Fifteen others interviewed for the study are not on the registry but were found by community activists, including Joseph Murphy of Rush, who have sought out people who say they have the disease, Seaman said.
Of the 50 people interviewed, roughly half live within about 10 miles of Hazleton, and the others live in the Wilkes-Barre area.
Seaman asked that anyone with the disease call the registry toll-free at 866-448-0242 by the end of the month to enroll in the study.
”Our primary goal is to make sure we have talked to everybody who is willing to talk to us,” Seaman said.
After the interviews, scientists will analyze the data. They expect to release findings in April.
”Our goal is to count the people, talk to them and describe who they are,” Seaman said. ”We’ll look for commonalities — do they work or live in the same areas, for example — to help us understand better where this came from.
”The main issue is to count and verify these cases,” he said. ”There were a lot of questions as to how many cases there actually were. We want to see if these are true cases and if there are more cases than are on the books.”
If the numbers show a serious increase in cases of the illness in the area, ”that would open the door to further research,” Seaman said.
The study was prompted by the concerns of several people, including West Penn Township physician Peter Baddick, who is among those who say materials from the Superfund site have leached into the groundwater.
Because of the links among groundwater sources, ”the entire region fits the description of a Superfund site,” he said.
”We should have 12.5 million people to have this number of cases of polycythemia vera,” he said. ”It’s alarming.”
Baddick asked the agencies to go beyond investigating the disease.
”The history on reporting of the disease is only in its infancy,” he said. ”We don’t have long-term historical data” to indicate the scope of disease.
Baddick said he asked the agencies to investigate myeloproliferative diseases — blood-borne cancers that include not only polycythemia vera but also lymphoma, multiple myeloma and leukemia.
”Polycythemia vera is only one member of this family of diseases,” he said. ”They have picked the one with the least amount of historical data.”
The other diseases have been linked to environmental factors.
Baddick said he has many more cases than normal of those diseases — including two new ones in the past two weeks.
McAdoo Associates operated a metal reclamation and incineration facility until a state permit was revoked in 1979. The Environmental Protection Agency found the soil there contaminated with heavy metals and low levels of various volatile organic compounds. Under EPA supervision, contaminated soil was excavated and the site was capped — a process completed in 1992.
The ground under the site is honeycombed with old coal mines where the toxic chemicals were dumped for decades. EPA test wells were dug to 200 feet, but residents say the mine pools were about 1,200 feet down.
At a Sept. 29 conference in Schuylkill County, scientists and doctors from the state Health Department, the toxic substances and disease registry and the U.S. Centers for Disease Control and Prevention said no cause has been found for polycythemia vera, so a link to pollutants is unclear.
At the conference, Health Department epidemiologist Gene Weinberg, who was part of a 2004 study of the cancer rate in the Tamaqua-McAdoo area, said Schuylkill had 22 cases of the disease, which can be classified as a cancer — twice the state average. But many of the cases are at least a dozen miles east of the Superfund site, in Pottsville and Frackville, which had four cases each, and Mahanoy City, which had three.