Medical Advice May Be in the Genes Print E-mail
Written by Jennifer Osborn   
Thursday, August 03, 2006

It’s common knowledge that diseases run in families, but how can you use that information to help protect the health of you and your children?

The Center for Human Genetics in Bar Harbor can help.

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Dr. Hubbard and Dr. Beekman collaborate on analysis of patient records. Staff Photo by Jennifer Osborn
The center counsels individuals and families about their genetic histories several times a year in Ellsworth at Maine Coast Memorial Hospital’s office on Resort Way.

The organization’s mission is to enable people to make informed decisions and get early detection of genetic disorders by raising awareness and understanding through education and support.

The center has a staff of six volunteers and a board of directors, which includes Ellsworth pediatrician Dr. Robert Beekman.

Beekman explained that the field of genetics has expanded from research to clinical application over the past 30 years.

Only in the last 10 years has Maine had “M.D. geneticists,” Beekman said. “As with everything else, they’re in Portland.”

The center helps by offering free genetic counseling nearby.

Here’s how it works: patients make an appointment to attend a clinic, in advance of which they have copies of their medical records and those of family members sent to the center.

The center’s staff sifts through the records and creates a family history chart.

“We do a lot of information gathering on the family history,” said Marlene Hubbard, a board member who has a doctorate in medical genetics from Indiana University Medical Center.

Hubbard teaches genetics at Maine Maritime Academy.

The staff determines what tests, if any, are available for the diseases you might be most at risk to develop and what information the tests might provide. The staff also shows how to interpret the results. All the information is compiled into a report that can be shared with medical providers.

For example, Cathy Tracy has had genetic counseling done for her family. Tracy’s mother had a rare thyroid cancer. There are at least two genetic mutations that cause that rare cancer.

Tracy said she wanted to know as much as she could about her genetic history for her children.

“I think it’s definitely made me more aware that there could potentially be a problem,” Tracy said. “I’m grateful I have the information in writing for future reference.”

The knowledge the center can provide empowers people to take charge of their lives by knowing the possible genetic links for disease.

People tend to ignore their health problems until they have children, which prompts them to take action, Beekman said.

Genetic testing is increasingly being covered by health insurance providers, Beekman said. And the cost of testing is decreasing.

Genetics play a huge part in your health. Beekman said the majority of human diseases have underlying genetic factors.

“Today almost all disease has a genetic underpinning that needs to be considered,” said Beekman.

Of course, lifestyle choices are another factor. Think of hypertension and coronary artery disease.

Most cases of diabetes are a combination of genetics and environment.

One goal of the center is to bring genetic testing into clinical medicine.

Doctors need to do their own genetic work, Beekman said. There will never be enough geneticists, so the field needs to be brought into primary care medicine, he said.

Hubbard said anyone getting a degree in biology today should take a course in human genetics as well as basic genetics.

The Center for Human Genetics participates in The Jackson Laboratory’s annual Short Course in Medical and Experimental Mammalian Genetics.

Families that have undergone genetic counseling at the center can volunteer to be subjects for study during the course. This has led the National Institutes of Health and Johns Hopkins University to invite certain families for extensive testing at their facilities.

The center was founded in 1968 as the Genetic Counseling Center by Dr. Morris Lambdin, a pediatrician, Dr. James Thaidigsman, an obstetrician and gynecologist, geneticist Dr. Thomas Roderick and Merrill Bunker, a cytogeneticist.

For more information, call 288-5815 or www.centerforhumangenetics.org.

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