SINGAPORE - The use of consumer genetic tests to predict health conditions has grown in popularity, in spite of warnings by experts, including the Ministry of Health (MOH), over privacy concerns and the accuracy of results that may not be backed by scientific data.

Consumer genetic tests, which usually involve a home-based saliva kit, typically give access to ancestry testing and basic health information screening such as obesity and hair loss.

But some direct-to-consumer (DTC) genetic test providers also claim to be able to predict increased risk of cancers.

Ms Breana Cham, senior principal genetic counsellor at KK Women’s and Children’s Hospital (KKH), said the results from screenings to predict predispositions to health conditions may cause undue alarm.

“Due to inadequate or even absence of pre-test and post-test counselling provided, patients may often misinterpret the DTC genetic test results, leading to unnecessary worry and anxiety, especially if the results show concerns for an increased ‘health risk’,” she added.

Genetic counsellors like her are trained to interpret results and explain to patients so that they can understand their diagnoses and anticipate medical needs and care options.

Ms Cham said clinical DNA tests are conducted to diagnose, predict and screen patients for diseases. DTC tests are generally not diagnostic.

She added that while genetic variations may confer an increased risk of disease, they do not guarantee the development of the disease.

Ms Cham said the accuracy of DNA testing done in a credible laboratory is extremely high.

“However, what is relevant is the rate of detection of a test being run.

“Not all conditions that are suspected to be genetic have an identified gene linked to the disease,” she said, adding that it is important to know that a ‘normal’ test result does not necessarily eliminate the possibility of a genetic condition.

“At the same time, not all genetic variations cause disease.”

KKH conducts a large volume of clinical DNA testing in Singapore. Since 2006, it has been running the National Expanded Newborn screening programme, which aims to screen all babies born in Singapore for metabolic and heritable diseases.

More parents are opting to have their children tested. The hospital said the volume of clinical DNA testing it conducts has increased approximately fivefold over the past 10 years.

Ms Cham said the increase comes on the back of cheaper, more widely available tests, and increased public awareness.

“Genetics knowledge has increased exponentially, and many diseases that previously could not be tested for are now routinely diagnosed by genetic testing,” she added.

“The cost of testing has dropped drastically due to advances in technology, making it more accessible, and there is now greater public awareness of the availability of genetic testing and its potential benefits.”

Ms Cham did not provide a breakdown of the costs involved.

The results from DTC testing can also work against consumers, said Professor Lee Soo Chin, head and senior consultant at the National University Cancer Institute, Singapore’s Department of Haematology-Oncology.

“When patients choose to undergo direct-to-consumer genetic testing, especially those who are healthy with no diagnosed medical conditions, they should be aware that if they are indeed found to have a disease predisposition genetic variant, this information can become part of their medical records and may adversely impact on their future insurability,” she said.

Prof Lee said people who undergo consumer genetic testing may be curious to understand medical conditions that they may be predisposed to.

“I have also seen patients who did the test before they got married or before they have children. It is possible that those with family history of a particular medical condition may be more interested to consider these tests,” she added.

“However, these tests are marketed directly to the consumer, so anyone can undertake the test without fulfilling any medical criteria and without seeing a doctor,” she said.

Prof Lee said because these tests include a very wide range of genes, some of the findings are more accurate than others.

For example, some of these consumer genetic tests may be able to detect a serious mutation in a gene that is associated with significant risk of breast and ovarian cancer.

In such cases, the results are clinically relevant and actionable based on clear medical guidelines on management, she added.

“On the other hand, such tests may also uncover genetic variants that only have preliminary evidence of increasing a particular condition... but there are no clear established medical guidelines on what to do with such individuals.

“In this regard, such a result will be clinically less meaningful and less ‘accurate’,” said Prof Lee.

Consumer curiosity

The Sunday Times reached out to seven firms that have a presence in Singapore and offer consumer genetic testing. Only two replied.

GenixPro, a Singapore-based company located in SBF Center, said that when a genetic test is ordered, customers are sent a kit with instructions on how to collect a saliva sample, which is then mailed back to the firm for processing.

Once the sample arrives at the lab, it will be genetically sequenced, and the results analysed and interpreted for the clients.

“In our understanding, the customer’s intent in ordering such tests is generally to fulfil their curiosity or an unmet need not serviced previously to the satisfaction of the consumer,” said a spokesman for the firm.

GenixPro, whose charges for DNA tests start from $200, said the results can offer insights on risks of developing certain health conditions and give an assessment of “disease manifestation and progression”.

It added that family history of medical conditions may make individuals more aware of their health.

“It is possible that they may be curious to seek more information about their health risks, and knowledge of their genetic predisposition may form one factor among all the likely determinants of disease or health condition.

“Conversely, it is equally likely that individuals may not want to find out more because of their knowledge and awareness of their family medical history,” said the spokesman, who added that demand for DNA testing has grown.

The firm did not provide numbers.

Imagene Labs, which also provides DTC testing, said its customer base of more than 15,000 in the past three years is keen on fitness and nutrition tests.

“Our test offers wellness reports from their genome from which there are exercise, dietary, supplementary and lifestyle recommendations for their action,” said a spokesman.

DTC providers operate in an unregulated environment in many countries, including Singapore. In May 2021, MOH published a 13-page guidance document for testing companies.

It also issued a caveat emptor to consumers in the form of an advisory in August 2021, and this was updated in November 2022.

The advisory warns consumers to not treat consumer genetic test results as a clinical diagnosis, adding that certain advice or recommendations in test reports may be ambiguous and not meaningful for consumers.

MOH said DTC genetic tests, which appear to be clinical in nature, may not actually be based on strong clinical or scientific evidence and may carry exaggerated claims about the influence that genes have on personal health.

Ms Cham said genetic testing for aptitudes does not have a strong evidence base, for example.

“It is hard to correlate a particular set of genetic variants with exactly how talented one is. The interactions between nature and nurture are still not so straightforward to ultimately determine aptitude or talent,” she added.

Ms Cham explained that there are more than 7,000 conditions linked to variations in human genes.

In discussing the value of DNA testing, it is important to distinguish the genetic component of a disease from other non-genetic factors, such as personal and family medical history.

The spokesman for GenixPro said that genetic information should not be viewed independent of other health factors such as lifestyle or family history.

“Ideally, a healthcare practitioner or counsellor should facilitate a comprehensive review of all this information and what it means for the individual. Such information should not be left to self-interpretation by the consumer,” the spokesman added.

Prof Lee emphasised the importance of pre-test genetic counselling.

“During pre-test genetic counselling, we explain to the patient the nature of the suspected condition that we are testing for, as well as highlight the potential disadvantages of genetic testing, including potential impact on insurability, negative emotions, and potential impact on family members,” she said.

DNA data protection

KKH cautioned that genetic data from DTC tests may be sold to third parties for marketing, service evaluation or research purposes.

“All consumers should be aware of their rights to their own genomic data regarding the utilisation and sharing of their genomic data with third parties for research or commercial activities,” Ms Cham said.

“At any point of time, they should have the right to withdraw consent from these activities, if consent was sought in the first place.”

Ms Cham said people need to be aware of the privacy and safeguards around their genetic data.

“Consumers should be aware of how their data is being used and the extent of the information being shared. As part of the scientific community, we are supportive of data sharing.

“However, we also are conscious of the potential for discrimination, misuse and privacy loss,” added Ms Cham.

GenixPro states on its website that it does use genetic data collected for “identification of disease patterns and the development of commercial products”.

It added that the client’s genetic data will be stripped of his name and contact information before being used for research and development purposes.

Organisations that collect, use and disclose personal data, including DNA information, are subject to the Personal Data Protection Act, said Mr Ignatius Chua, a lawyer with Kelvin Chia Partnership.

He added that in providing biological samples, name and other contact information, consumers are deemed to have consented to the collection, use and disclosure of his personal data by those that provide the clinical and non-clinical DNA tests.

The onus is on patients to read the terms when signing up for tests, as well as the company’s privacy policy, before undergoing genetic testing and providing their biological samples. 

Mr Chua said firms that provide non-clinical DNA testing are operating in an unregulated environment and do not need to abide by MOH’s guidelines.

“Unlike clinical genetic testing services, which are regulated and subject to licensing requirements under the Private Hospitals and Medical Clinics Act, non-clinical genetic testing services currently remain unregulated as they are considered to pose little to no risk to consumers,” he added. 

When actor Chris Hemsworth underwent DNA testing and discovered in 2022 that he was eight to 10 times more likely to develop Alzheimer’s disease, it fuelled curiosity surrounding genetic testing.

Ms Cham said genetic testing is not perfect, adding that not all genetic variations cause disease.

“As in the case of Chris Hemsworth, the genetic variations seen (based on the publicly shared information) may confer an increased risk of disease but do not guarantee the development of the disease state over a person’s lifetime,” she added.

Correction note: The reference to National University Cancer Institute, Singapore’s Department of Haematology-Oncology has been corrected. We are sorry for the error.