Implications of genetic testing

Genetic testing is supposed to let people know if they are predisposed to certain diseases or conditions - but is this information ultimately helpful or harmful?

Genetic screening at birth or an early age enables the implementation of medical management that can postpone the onset, effectively treat or even cure genetically based conditions. Surely this is a boon to both the individual and the community.

However there is a nasty underbelly to this - the genetic information may be used by life insurance companies to restrict or deny insurance on the grounds of family history of disease or by employers in making decisions about hiring, firing, promoting or compensating employees.

The treatment of individuals or their relatives on the grounds of actual or presumed hereditary differences is discriminatory and it can be argued that the use of such genetic information or screening results by organisations amounts to genetic discrimination.

In the US …

In the US, the Genetic Information Nondiscrimination Act (GINA) was signed into law in May 2008 and comes into effect completely this year. It is claimed that GINA will protect Americans against discrimination based on their genetic information when it comes to health insurance and employment, supposedly paving the way for people to take full advantage of the promise of personalised medicine.

The bill forbids health insurers from refusing coverage, or raising premiums, for healthy people based on genetic information and insurers can not require people to take tests which might show a predisposition to a disease.

Employers also are prohibited from using genetic information.

Interestingly, while this federal legislation aims at prevention of discrimination by health insurers and employers it is not all encompassing as it excludes life insurance, disability insurance and long-term care insurance.

In Australia …

From 2002-2005 in Australia, the Genetic Discrimination Project was funded by an Australian Research Council (ARC) Discovery Scheme Grant. The project involved researchers from three Australian institutions, undertaking an empirical study of genetic discrimination in Australia.

The three-pronged study explored the experiences of more than 1000 people with family histories and/or genetic risks or genetic predispositions in a range of social contexts who had had genetic testing done.

The policies and practices of insurance companies regarding the use of genetic risk as a factor for individual risk assessment for the purposes of insurance underwriting in relation to life, disability and other related forms of insurance was also explored. Allegations of genetic discrimination arising within the Australian legal system were also examined.

About 10% of the consumers claimed to have experienced some form of discrimination with 14 cases of people being refused insurance cover, or being coerced into genetic tests being confirmed.

It is currently legal for life insurers and employers to utilise a person's genetic information, as long as they are able to justify their actions. Applicants for insurance generally have a duty to make full and frank disclosure pursuant to the Insurance Contracts Act 1984 (Cth). Based on this information, some insurers denied insurance to the respondents in the above study, whilst others imposed onerously high premiums or incorporated exclusion clauses in the policies for claims of cover at the onset of specific diseases.

The director of the Centre for Genetics Education, Associate Professor Kristine Barlow-Stewart, says some decisions are unjustified.

"A woman in the year 2000 was denied insurance altogether because of her breast cancer and ovarian cancer gene test," she said.

"In 2003, another woman disclosing the same genetic test result to the same insurance company was given a breast cancer only exclusion."

According to Barlow-Stewart many people do not know about their rights when refused insurance and the use of genetic test results should be brought under the Disability Discrimination Act to protect consumers.

Direct-to-consumer genomic tests

Genetic tests marketed directly to consumers - also known as DTC genomic tests - are becoming more common in Australia and around the world.

DTC genomic tests are commonly marketed over the internet, offering to scan a person’s DNA for markers including: illnesses, such as breast cancer or schizophrenia; personal attributes, such as IQ or propensity towards alcoholism; or quirky facts, such as perception of bitter tastes.

PhD candidate Sudeepa Abeysinghe from the School of Social Sciences at ANU is calling for people who have taken a DTC test to participate in a new study looking at how they perceived the test and its results, with a focus on how they reacted to the information gained from the test. They will complete an online survey, which may be followed up by an in-depth telephone interview.

“There is still very little regulation around this kind of testing, so we have very little information about whether or not the results are useful to people, or if they’re viewed as just another piece of incomplete health information, or if they actually lead to harmful outcomes like increased anxiety,” says Abeysinghe.

“As yet, the reaction of everyday people to these kinds of tests remains unknown,” she says. “Do the people who take a DTC genomic test feel they’ve lost part of their privacy? Do they experience any stigmatisation or discrimination based on the results?”

Abeysinghe says that while the Australian Therapeutic Goods Administration released draft guidelines for the regulation of some kinds of genomic tests in 2007, and other regulatory measures have been proposed, these have yet to be implemented. She says that answering the questions posed in her study will be crucial for informing future regulation around the growing genome testing industry.

“Then there are larger questions to do with regulation. It’s important that we know more about the experiences of individuals so we can make decisions as a society about how we want to handle direct-to-consumer genomic testing.”

Abeysinghe can be contacted on 02 6125 6791 or sudeepa.abeysinghe@anu.edu.au and the online survey can be found at: https://apollo.anu.edu.au/default.asp?pid=3937.

Implications of genetic discrimination

If consumers believe they will be adversely affected by undergoing screening they will be less likely to participate. This may result in failure to detect and treat diseases at an early stage and add substantially to the private and a public costs involved in treating preventable genetic disorders when they are diagnosed at a later stage.

Also, should insurers be entitled to use genetic information to calculate risk for the purposes of their commercial viability?

Other questions that need clarification include: Should people’s genetic information be stored and maintained by commercial entities? And does too much regulation inhibit an individual’s freedom to know about their own genetic information?

If the law in Australia is to keep abreast of the rapid technological advances in genetic screening and prevent genetic discrimination in areas such as insurance and employment both state and federal levels will require review with wide public participation.