Genetic researchers prepare for a muddying of the waters

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Genetic discrimination, over-the-counter testing sending wrong impression

Genetic testing, analyzing DNA to look for genetic alterations, traits connected to inheritable conditions within families, has saved lives and provided information used in the ongoing search for medical cures.

However, with concepts such as "genetic discrimination" and the introduction of the at-home genetic testing kit, there exists the potential for a negative perception of genetic testing to emerge, without greater public education.

Genetic testing, analyzing DNA to look for genetic alterations, traits connected to inheritable conditions within families, has saved lives and provided information used in the ongoing search for medical cures.

However, with concepts such as "genetic discrimination" and the introduction of the at-home genetic testing kit, there exists the potential for a negative perception of genetic testing to emerge, without greater public education.

Any such perception can lead to lower participation rates in testing, say concerned researchers, keeping people from useful health information or slowing advancements in research.

For more than 30 years, Dr. Jane Green of Memorial University of Newfoundland has helped in the research of genetic diseases, including hereditary non-polyposis colon cancer, Bardet-Biedl syndrome, hereditary eye disorders and hereditary breast cancer.

In 2001, she was appointed to the Canadian Institutes of Health Research (CIHR) genetics advisory board and she is a member of the provincial advisory committee on genetics research in Newfoundland. She knows genetics.

Genetic testing is not limited to lab work to seek cures for diseases, she emphasized. It can also help in providing an earlier diagnosis of illnesses and a better outcome in the treatment of individuals.

"There wouldn't be genetic research if there was not genetic disease. There are some families who have a problem," she said.

And having seen the benefits first-hand, she worries about popularizing ideas like genetic discrimination.

What exactly is genetic discrimination?

Consider the following scenario: your uncle is diagnosed with ALS, an illness that has taken the lives of other members of your family in the past. The disease kills the majority of people two to five years after their symptoms first develop. You are told the potential for developing the illness can be passed down within families - although even with the gene there is a 50 per cent chance of not developing the disease.

Still, you are worried and you mention the situation to a co-worker and soon the whole office has heard.

Shortly after, although you had been in line for a prestigious promotion, you are passed over. Someone mentions that the boss had been talking about promoting someone they could be sure would be around as a stabilizing force "for years to come" and that, considering your recent discovery, they could not be sure you would.

Other scenarios are more subtle, extending into family relationships and friendships.

Currently, 15 national associations - from the ALS Society of Canada to the Kidney Foundation - have joined forces as the Canadian Coalition for Genetic Fairness (CCGF) to push for public education on the subject. The coalition is also calling for specific legislative protections against genetic discrimination.

In the United States, the Genetic Information Nondiscrimination Act (GINA) was signed into federal law by then president George W. Bush in May 2008.

Here in Canada, on April 14, NDP Member of Parliament for Winnipeg North, Judy Wasylycia-Leis, took up the coalition's cause and presented Bill C-508 in the House of Commons, an amendment to the Canadian Human Rights Act that would provide specific protections for genetic fairness.

While Wasylycia-Leis' bill has since died, as she is no longer in her position, the coalition is searching for another representative to re-introduce the amendment.

"For genetic discrimination, what we're really looking at are the issues regarding perceived or imputed disabilities, perceived or imputed disease," the national director for advancement and family services with the Huntington Society of Canada, Joanne Watton, told The Telegram. The Huntington Society of Canada is making a stand with the coalition.

"The Human Genome Project started back in the 90s, but the laws were created significantly before that, so we haven't had the opportunity for the legal landscape and the decision-making and the attitudinal landscape to really keep up with the changes in science," Watton said.

Her society, as with others contacted by The Telegram, have heard anecdotal information on discrimination.

Genetic testing for the prediction of Huntington Disease was first developed in British Columbia and has been available since the 1980s.

In 2009, the British Medical Journal published the results of a survey related to Huntington's conducted by researchers at the University of British Columbia. The survey included 167 people across Canada, testing for the genetic mutation that can be a precursor to Huntington's: 83 had the Huntington's gene, 84 did not, 66 declined to be tested.

In a followup survey, all of the participants were asked to report cases wherein they felt they had experienced genetic discrimination based on their family history or genetic testing. Discrimination was reported by 93 of the 167 people taking the survey, or about 40 per cent.

"For example, if you're going to apply for insurance, they will ask if you or anybody in your family has a history of Huntington's disease or neurological disease and they drill down. And what we have been finding is that people have been outright denied insurance or the costs are so prohibitive that they don't bother with the insurance," Watton said.

She could not provide any specific examples that such discrimination has occurred. However, having heard the stories and seen the survey, she strongly believes discrimination is happening on the basis of family history and genetic testing.

"The discrimination is happening, but people don't necessarily want to come forward," she said. "Because if you are dealing with a disease, you're not necessarily going to want to fight or go on the record. You're probably just going to want to get on with your day."

In any event, adding specific protections to the Canadian Human Rights Act would provide assurances to keep people from being afraid to get tested, from being afraid to know and from being discriminated against, she said.

"As the human genome project unfolds, more and more information is going to be known. Ten years ago there were 100 genetic tests available. Today there are over 1,500 genetic tests available," she said. "So this is going to keep going and going and going - and so it should. As we know more about genes we will also know more about treatments and cures. So those two things will go hand-in-hand. But if people are afraid to come forward and don't want to know if they're gene positive or gene negative or at risk, then they're not going to want to participate in research and if they don't participate in research, that slows the potential for cures and treatments to come forward."

Meanwhile, any concerns of the potential for genetic discrimination are set to become more immediate, as genetic testing moves over-the-counter.

At-home genetic testing kits are already available for order online, through sites like 23andMe (www.23andme.com) or Navigenics (www.navigenics.com), for anywhere from US$400 to US$1,000.

A couple of millilitres of spit in a tube, mail it back and receive your very own genetic profile - 20 per cent increased risk of Alzheimer's, 50 per cent increased risk of Parkinson's.

Last week, one company offering the service - Pathway Genomics (www.pathway.com) of San Diego, Calif. - made the move to put its test kits into more than 6,000 drugstores in the United States.

Federal regulators with the Food and Drug Administration put a stop to the move, yet the in-store test kit could very well be on its way.

The question is what will be the impact of this type of unfiltered information be on the general population, on people who did not necessarily have any reason to be tested, but are hearing they are at increased risk of X, Y and Z?

"I am concerned about that because there could be a tremendous amount of information and there's no one really to interpret it," Memorial University's Green said.

She explained that, with some conditions such as diabetes, "there's no question that there are genetic factors, but the genetic factors in one family with diabetes may be very, very different than the genetic factors that affect another family."

As well, someone with the same genes may have lived in a different environmental situation and have a different lifestyle, leading to very different risk assessments.

"If you just get a printout, you have no way of knowing," she said.

At the Huntington Society of Canada, Watton agreed.

"It can be a lot of fun, it can be very interesting, but you have to know what you're dealing with," she said.

Both said education is the key to understanding the information available on genes and the value of that information.

For researchers like Green, an aware and discerning public will fend off a negative perception of all things genetics.

The alternative is a hard future for genetics.

The discrimination is happening, but people don't necessarily want to come forward.

Joanne Watton, national director for advancement and family services , Huntington Society of Canada

Organizations: Canadian Institutes of Health Research, Huntington Society, Memorial University of Newfoundland The Telegram ALS Society of Canada Kidney Foundation Canadian Coalition for Genetic Fairness CCGF House of Commons British Medical Journal University of British Columbia Food and Drug Administration

Geographic location: Canada, Newfoundland, United States Winnipeg North British Columbia San Diego, Calif.

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