18.04.05 Direct to consumer testing

Question 1

What are some of the different categories of DTC tests?

Answer 1

1. Testing for predisposition to medical conditions with a well known genetic component
2. Dispositional health tests
3. Nutrigenic tests
4. Genetic matching tests
5. Paternity testing
6. Genetic relatedness tests
7. Ancestry tests
8. Athletic ability / Talent

Question 2

What are some of the ethical considerations of DTC testing?

Answer 2

1. Autonomy
2. Beneficence
3. Non-maleficence
4. Justice

Question 3

What existing legislation is in place for DTCs in the UK?

Answer 3

Within the UK, there is no specific legislation that relates to genetic testing in general and nothing that addresses DTC in particular. However, if a DTC genetic testing company operated in, and from, the UK, it would have to comply with a wide range of legislation and other regulatory factors to protect the consumer:

1. UK Human Tissue Act 2004 – criminalize genetic analysis of human tissue without the consent of the donor.
2. Data Protection Law - general obligations of confidentiality applicable to the test results provided to consumers.

In the UK, Medical genetic tests – if covered by the In Vitro Diagnostic Devices (IVDD) Directive - are classified as ‘low risk’ and therefore exempt from independent pre-market review. Only genetic tests for three conditions or genotypes (phenylketonuria, HLA tissue type and Down’s syndrome) are classified as high risk. The HGC recommended this risk classification should be reviewed.

Question 4

What are the guidelines drawn up by the UK Human Genetics Commission?

Answer 4

An advisory, rather than a regulatory body. ‘Common Framework of Principles’ (2010) aim to ‘promote high standards and consistency’ in the provision of DTC genetic tests by commercial providers and ‘safeguard the interests’ of consumers and their families - information provided, counselling and continuing support, the role of consent, laboratory processes, the provision and interpretation of results, and complaints procedures.

Question 5

How are DTCs offered to consumers?

Answer 5

DTC tests are offered through the Internet. Without an international regulatory framework, the enforcement of whether or not a company is adhering to several national or regional legislations is based on voluntary compliance by the company. An international product quality certificate (such as ISO) should be introduced that controls for compliance with ethical standards, provisions for counselling and stringent standards of scientific validity – this does not yet exist.

Question 6

What do ‘dispositional health tests’ cover?

Answer 6

Offer an absolute lifetime risk and/or relative risk of an individual developing a condition compared with the general population, e.g. diabetes, heart disease, genetic component of obesity, drug sensitivities e.g. Warfarin. Usually based on genome wide SNP association studies. There are a plethora of such tests available in the DTC market.

Question 7

What do ‘nutrigenics tests’ cover?

Answer 7

Tests intended to provide information about how an individual metabolises nutrients. May be accompanied by ‘personalised’ diet plans and/or dietary supplements.

Question 8

What are ‘genetic matching tests’?

Answer 8

Ofered by online dating companies e.g. Genepartner.com claim to match individuals on the basis of their HLA genotype (in addition to social factors).

Theory is that the offspring of individuals with different HLA genotypes will have a more genetically diverse immune system and will be capable of fighting off a greater number of pathogens. It is claimed that this translates into stronger attraction between individuals with different HLA genotypes.

Question 9

What are the considerations around DTC paternity testing?

Answer 9

o Paternity testing: many websites in the UK offering this. Human tissue act section 45 (consent) suggests that it is illegal for a paternity test to be conducted without the potential father’s knowledge and consent, but for children born since 2003 and as long as the potential father is named on the child’s birth certificate, a paternity test can be performed without the mother’s consent.

Question 10

What is the purpose of genetic relatedness tests?

Answer 10

Tests intended to determine/or provide information about a genetic relationship, including paternity and maternity tests.

Question 11

What is the purpose of ancestry tests?

Answer 11

Tests intended to provide information about an individual’s relatedness to a certain ancestor or ancestral group and/or how much of an individual’s genome is likely to have been inherited from ancestors from particular geographical areas or ethnic groups (e.g. 23and me, International Biosciences, Oxford Ancestors). 23andMe claim to give the broadest autosomal coverage of any ancestry provider looking at 1 million SNPS in the autosomes. This analysis can give an idea of an individual’s historic global origins.

Question 12

What traits are considered in athletic ability/ talent tests?

Answer 12

Tests the inherent capacity to excel at certain sports. Despite the fact that tests for athletic ability or talent are generally not well validated and even those that have been validated are often of little predictive value, the use of these tests are growing. With regards to talent, the character traits evaluated include: optimism; risk-taking; shyness; depression; hyper activeness; and adaptability.

Question 13

From a consumer’s perspective, what are the considered benefits, motivations and concerns of undertaking DTC?

Answer 13

Motivations

1. Curiosity
2. Gaining actionable knowledge
3. Altruism (family motivation or helping the wider research community)

Limited concerns:

1. Repeated concern is the confidentiality of results, specifically that genetic results could affect health insurance.
2. Individuals rejecting DTC-GT show concern about privacy, how results would affect them, ‘unwanted information’, unreliability of the test results.

Question 14

From the studies into DTC (Wasson et al. 2013; Goldsmith et al. 2012), what is the awareness, knowledge and understanding of personal genomic testing by consumers?

Answer 14

<50% of participants are confident about understanding the risks and benefits of personal genomic testing or of knowing enough to understand the results

most appear to have realistic expectations and be fully aware of the limitations of genomic tests

most understand the low predictive power of the result alone, and are aware that the results are best viewed in combination with other traditional health risk factors

Question 15

What are some of the impacts of DTC and results reported by consumers?

Answer 15

Emotional and psychological reactions: most common response was feeling happy or pleased, especially if participants had not received many high-risk results.

Changing behaviour: half of participants made no changes in response to results, mainly because there was nothing on which to act. A few participants were motivated to make positive health behavior changes (diet or exercise) after receiving “low risk” results.

Other responses: carrying a drug sensitivity list with them, having a particular health condition checked, communication with extended family related to testing.

Most report intention to share results with their physicians.

9% of participants sought additional testing, 16% changed a medication or supplement

Question 16

What are the possible benefits of providing BRCA1/BRAC2 DTC?

Answer 16

1. For three most common ASJ mutations.The majority of BRCA mutation-negative participants perceived their cancer risk to be unchanged; only one woman thought her risk was reduced.
2. A number of women without a family history of early onset breast or ovarian cancer discovered that they carry a BRCA1 or BRCA2 mutation that conveys a high risk. In many families, these benefits were extended to relatives of mutation-positive study participants. Newfound awareness of their high risk led the majority of these women to seek medical advice and many took or are planning to take risk-reducing actions upon the advice of their physicians.

Question 17

On the whole the DTC experience has been positive to consumers

Answer 17

Consumers find DTC-GT worthwhile: some mutation carriers felt it may have saved their lives or the lives of relative; received health information useful for personal risk assessments or family planning, discovered or confirmed their ancestry, or just had their curiosity satisfied.

Question 18

From the HCP perspective, what is their view of DTC (Bernhardt et al)?

Answer 18

Less than half of the physicians report being aware of DTC-GT. Of the available DTC tests, genomic risk profiles for complex diseases (e.g., diabetes and heart disease) and pharmacogenetic testing are most likely to demand the attention of HCPs.

Most HCPs are willing to try to help patients understand genomic information, many remain skeptical about their ability to interpret genomic information. There is a need for additional physician education about the clinical applications of new genomic technologies and interpretation of the results.

Question 19

From the Clinical Geneticist perspective, what is their view of DTC (Bernhardt et al)?

Answer 19

A high percentage of European clinical geneticists are aware of DTC GT and the majority do not agree with the model of provision used by many commercial companies for certain severe or actionable health conditions. Over one-third may have been contacted by at least one patient regarding these services.

The majority find it unacceptable to provide non-face-to-face medical supervision for (i) a presymptomatic test for a condition with very high penetrance; (ii) a predictive test for a condition that has a ‘medium’ penetrance of 50% to 60%; and (iii) carrier testing.

For conditions that are neither treatable nor preventable and for disorders with serious health consequences, clinical geneticists do not accept offering such genetic tests outside of the traditional healthcare setting.
Despite this disagreement with the DTC model of provision, the majority would offer genetic counselling to patients who asked for a consultation after having undergone DTC genetic testing.

Question 20

What is autonomy? Why should it be considered in the DTC context?

Answer 20

Autonomy - respect for the individual and their ability to make decisions with regard to their own health and future

Can be argued that legislation intended to prevent or deny individuals obtaining genetic information about themselves denies their autonomy and so is unethical.

Example: At present DTC GT is banned in France, Switzerland and Germany and any genetic testing must be carried out following consultation with a clinician.

Question 21

What is non-maleficence? Why should it be considered in the DTC context?

Answer 21

Beneficence - actions intended to benefit the patient or others

Argument that genetic testing may bring about positive changes in lifestyle e.g. individuals predicted to be at higher genetic risk of diabetes and/or obesity may start to diet and exercise.

Question 22

What is beneficence? Why should it be considered in the DTC context?

Answer 22

Non-maleficence - actions intended not to harm or bring harm to the patient and others

DTC brings the potential for false reassurance e.g. individuals who are not deemed to be at elevated genetic risk of type II diabetes but are at high risk due to lifestyle factors may be falsely reassured and not take action.

There is also a risk for the generation of unnecessary anxiety through ‘over diagnosis’. Dispositional tests in individuals worried about a certain condition e.g. someone who’s parent had Alzheimer’s disease, may be extremely anxious about their test results, possibly needlessly.

This may unnecessarily put an extra burden on public health care if patients seek additional genetic counselling or visit their GP more often. However, existing research has shown that individuals with genetic risk information generally have little stress or anxiety. Is this likely to change looking to the future?

Question 23

What is the consideration for ‘justice’ in the DTC context?

Answer 23

Justice - being fair or just to the wider community in terms of the consequences of an action.

Inequity of access may be seen as unjust. DTC genetic tests tend to only be available to those who can afford them. The discovery of previously unknown relatives through ancestry testing may be seen as unjust by some of the parties involved.

Question 24

What are some of the points covered by the European Society of Human Genetics policy on advertising and provision of predictive genetic tests by such DTC companies?

Answer 24

(1) clinical utility of a genetic test shall be an essential criterion for deciding to offer this test
(2) laboratories should comply with accepted quality standards, including personnel qualifications
(3) information about the purpose and appropriateness of testing should be given before testing
(4) genetic counselling and for some tests psychosocial evaluation should be offered
(5) privacy and confidentiality of sensitive genetic information should be secured
(6) measures should be taken to avoid inappropriate testing of minors and legally incapacitated persons
(7) all claims regarding genetic tests should be transparent; advertisement should be unbiased and marketing of genetic tests should be fair
(8) in biomedical research, health care and marketing, respect should be given to relevant ethical principles, as well as international treaties and recommendations regarding genetic testing; and
(9) nationally approved guidelines considering all the above aspects should be made and followed.

Question 25

What are the potential criticisms of DTC?

Answer 25

DTC provision model of genetic tests has been criticized for its absence of individualised medical supervision, the absence and/or dubious quality of pre- and post-test information provision and genetic counselling, and the inappropriate genetic testing of minors. This adds to the concerns regarding the limited predictive value, clinical validity and utility of various DTC genetic tests presently on offer. Further concerns include the way that DTC genetic testing companies carry out research, the (lack of) respect for privacy and the potential burden on public health-care resources caused by their lack of clinical follow up. In light of these concerns, various professional organisations and governmental agencies have published statements to inform, educate and/or warn consumers about DTC genetic testing.