New class The human genome was reduced to personal terms as six people in a class at the Queen's Medical Center extracted DNA from samples of their blood.
draws DNA in a
personal vein
A Queen's genetics course
offers lessons in hands-
on testingHMSA adopts rules
for genetic testing coverageBy Helen Altonn
haltonn@starbulletin.com"It's not just about you -- it's about your parents and your kids," said instructor Glenn Magyar, stressing the family history represented by the small glob of DNA floating in each person's tiny vial.
The hands-on class is part of a series being conducted by a Queen's team to inform physicians and other health-care workers about genetic testing.
Magyar, Technology Education & Development manager, organized the program, assisted by Tim Donlon, Genetics Center director, and his wife, Susan Seto Donlon, certified genetic counselor and adult genetics coordinator.
Art Ushijima, Queen's president and chief executive officer, and other Queen's executives were in the first class in March.
"We just wanted to expose people to the power of genetic testing with a fairly simple test," Ushijima said. "You learn something about yourself. ... At least I did."
The test focuses on a gene that regulates the level of homocysteine (ho-mo-sis-teen) in a person's blood. Elevated homocysteine is associated with abnormally high levels of clotting, atherosclerosis, cardiovascular disease including heart attacks and stroke, and neural tube defects like spina bifida.
The good news is, homocysteine can be cleared out of the blood with Vitamin B complex and folic acid.
"The enzyme is not completely broken," Magyar said. "It is just kind of wobbly, like tires low on air. By taking B complex with folic acid, you're pumping up the tires so they flow more smoothly."
Participants in the genetic testing course have their blood drawn in advance for analysis in Donlon's lab. The results are delivered in confidential envelopes at the end of the class.
"'I'm now on my B-6 and folic acid and all of that," Ushijima said, noting he has his a little vial of DNA in his office. "Once a person learns about themselves, it's really quite enlightening, powerful.
"So much is unknown -- that's probably the scary part of it," Ushijima said. "We understand the potential power and, certainly, along with that, potential abuse."
Three doctors, a nurse, a high school student and a reporter attended the recent class. "You hear about genetic mapping, the human genome," said participant Ron Tagami, a dentist. "Now we're using the information."
Under Hawaii's laws, Magyar pointed out, people cannot be fired, health insurance cannot be denied or premiums raised based on their genetics.
"What we are doing," he said, "is getting geared up for all the information coming out of the Human Genome Project. As more and more genes are identified, we want to be prepared to offer people an opportunity to see if they're at risk or increased risk for a certain disease."
Many times, that can be determined simply by taking a family history covering three or four generations, he said. But when a disease pops up repeatedly in a family, the patient would benefit from a DNA test, he said.
The laboratory course is offered as a refresher on genetics for medical personnel and to show what happens if a patient has a family history requiring counseling and possibly genetic testing, he said.
Most adult diseases are preventable, stressed Magyar, who has two mutants of the gene and is taking B vitamins.
Genetic testing can have a positive impact if a person considers the results just as they do blood pressure, weight, cholesterol and other things needed for a healthy life, he said.
Tim Donlon checked his own DNA for the gene because of a family history of heart disease and neuro tube defects. He has two copies of a variation that puts him at risk for high levels of homocysteine in his blood, which causes the other abnormal problems.
"We think by itself it may not be the only factor, but it can help push you in that direction if you're predisposed to it," he said. Aging, family and personal history and environmental factors, such as smoking and obesity, could increase the risks, he said.
"People think if you have a genetic disease, it's a death sentence. But this (gene) is like the Cadillac of diseases," he said, since the risks can be reduced significantly by lowering homocysteine levels.
"This is the tip of the iceberg for genetics," Donlon said, explaining a panel of about 50 genetic variations is being developed specifically to test for cardiovascular disease.
"Each one may increase someone's risk two- or threefold. ... I think we'll be able to identify people who will benefit most from certain types of therapies."
The genetics course stresses confidentiality, Tim Donlon said. "A lot of doctors are scared about this." The program also is intended to increase their appreciation for counseling, he said.
Susan Donlon explained that counseling is a "communications process," looking at family and personal history to assess risks and relieve anxiety.
In the past, she said, nothing could be done to prevent heart attacks or birth defects resulting from high homocysteine levels. Now they can be prevented, but people often are afraid and do not show up when referred for a genetic test, she said.
"They don't want to know. They think they can't do anything about it anyway. But most would benefit from the results."
She said 30 percent to 40 percent of people carry a mutation or alteration of the gene that regulates the level of homocysteine.
Identifying common genetic variations in people will provide information to modify medical care, Tim Donlon said. For example, whether people metabolize drugs slowly or quickly could affect their response to treatment, he said.
Connie McClure, a nurse at Queen's, said forensics programs on TV triggered her interest in genetics. She wants her two grown children to know if they are inheriting any gene variations, she said.
Holistica, a health center that scans for cancer and other diseases, is entering into a partnership with Queen's for genetic testing.
"What these guys are doing -- a lot of counseling, explaining the test to clients -- is really the important part," said Dr. Jeffrey Yu, Holistica president and chief executive officer, who took the two-hour course.
"The worst thing is a patient who doesn't care about their health. We get them in the hospital," he added. "Even if it's bad news, this is good, we can do something about it."
Vanessa Sim, a Maryknoll School senior who aspires to a medical career, said she hopes the genetics course can be opened to more high school
HMSA guidelines adopted last November for genetic testing apply to its Preferred Provider (fee-for-service) Plan, Health Plan Hawaii (HMO plan) and Medical Plan for QUEST members. Coverage is provided under these conditions: HMSA adopts rules for
genetic testing coverageStar-Bulletin
>> To diagnose or explain symptoms of possible genetic disease for patients when the medical usefulness of the test is established.
>> For early diagnosis and therapeutic measures to prevent or reduce the state of the disease when services are pre-certified for family history of breast cancer, ovarian cancer, familial adenomatous polyposis (precancerous polyps in the colon and rectum) and hereditary nonpolyposis colorectal cancer.
Some limitations and exclusions apply.
For example, genetic counseling generally is not a separately covered benefit. Pre-certification is required in certain circumstances, as described above.students.
Magyar said the team is taking it to the Hawaii Medical Service Association next week. "They have a vested interest in what's going on here," he said, predicting consumers eventually will demand broader insurance coverage for genetic testing.