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The University of Southampton
Clinical Ethics and Law at Southampton

CELS Response to House of Commons Science and Technology Committee inquiry into ‘Commercial Genomics’

Published: 12 August 2019
CELS
CELS

We are concerned about the impact of commercial genomic testing, particularly regarding the interpretation of genomic data in isolation from the context of clinical symptoms and family history. Genetic variants will usually only predict disease well if found in the context of a medical or family history of the relevant disease. If a ‘disease-causing’ genetic variant is found in a person with no medical or family history of the corresponding disease, it may be that there are (currently unmeasurable) protective genetic factors in that person’s family that mean that the variant is less likely to lead to disease in them. This strongly contrasts with the public image that exists around genetics, which is overwhelmingly clear-cut and unambiguous in terms of the ability to predict future health risks through genetic testing. In contrast to genetic tests delivered through the NHS, direct to consumer (DTC) tests isolate genetic data from the medical and family information that gives it context. The resulting interpretation may offer a false sense of security or induce anxiety, when individuals are informed that they either have a low or high risk of developing specific conditions.

Responses to specific questions

1.   The extent to which currently available genomic sequencing and interpretation can provide accurate and unambiguous health results for healthy and ill sections of the population

The interpretation of genomic data in and of itself cannot offer accurate and unambiguous insights into a person’s health; genomic data is only one part of the picture. Genetic results must be interpreted within the context of clinical evaluation of a patient’s symptoms and signs, the family history and the reasons underlying the test request. Commercial providers can only offer tests that modify the estimation of individual risk by very modest amounts, often in situations where lifestyle factors, such as excess weight, and environmental exposures, such as smoking, make a far greater contribution to overall disease risk than the DTC results.

Another confounding factor is that commercial or publicly available databases that are used to interpret genetic variants may not be representative of the ancestry of the customer, meaning that a particular variant carries a different prediction. For ‘healthy’ sections of the population, without a strong family history of disease or other risk factors, it is unlikely that commercial genomic testing will be able to provide accurate and unambiguous results.The counselling or other support offered for those receiving, or considering asking for, commercial genomic test results, and whether this is to the standard required.

2.   The counselling or other support offered for those receiving, or considering asking for, commercial genomic test results, and whether this is to the standard required.

Genetic counselling in an NHS setting has the purpose of informing patients of the different kinds of information that may result from a genetic test, including uncertain findings, and managing patient expectations before a test is conducted. When returning genetic test results, counseling serves to explain and contextualize genetic information to patients. This counseling process is currently largely missing in a DtC context, which may result in misunderstandings concerning the obtained data. This is particularly the case for statistical risk communication. For instance, an individual may be informed to have five times the average risk to develop a specific condition, but in terms of overall risk this may still be deemed low.

CELS is concerned that there is insufficient support/counselling available for people receiving or asking for commercial genomic testing. Currently, individuals who access commercial testing seek further counselling from NHS clinical genetics services. If the volume of commercial genomic testing increases, there are concerns that there will be insufficient numbers of NHS staff to provide necessary counselling to those seeking follow up for such testing.

3.   The potential benefits and risks for the NHS that arise from the increasing availability of commercial genomic testing

Significant risks for the NHS are arising from the availability of commercial genomic testing, most notably an economic burden that comes from verifying and investigating results for patients who present at NHS services with results from DTC tests.

Increasingly, ‘healthy’ people, who in the context of an NHS setting would have no reason to be referred for a genetic test, are paying for private genetic tests and on the basis of these tests alone are being diagnosed as at increased risk of developing certain life-threatening conditions. Not only are the tests analysed without the context of other medical information that is essential in providing an accurate interpretation of the data, but the results are delivered without the support, further investigations, and treatment plan that would be provided within an NHS context. In the absence of this support, recipients look to the NHS to explore what to do with the information. Additional genetic tests are subsequently performed in NHS laboratories to verify DTC test results, which often reveal inaccuracies in the original data or its interpretation. The economic burden of pursuing additional investigations is placed at the door of the NHS, while commercial companies profit from delivering potentially unreliable results.

Additionally, commercial genomic testing may create a serious drain on a resource-constrained system where patients with ‘variants of uncertain significance’ compete for places in clinic with those with proven genetic conditions. People who do not qualify for genomic testing under the NHS (because they do not have sufficient risk factors) will, by virtue of their having a test result, displace other people who are at higher risk of disease. These outcomes could mean that there is inequity of access, with those whose income allows for DtC testing being able to ‘jump the queue’. Ultimately the provision of commercial genomic testing could lead to greater inequalities in the health system.

4.   The potential benefits and risks, for individuals and for the NHS, and the ethical implications of the NHS offering genomic testing to healthy individuals willing to pay and share their data anonymously

Sharing de-identified genetic data is important for facilitating good genomic medicine, as often interpretation of genetic variants relies heavily on comparison to databases of ‘healthy’ population controls, and databases of variants thought to have caused disease in other patients. However, in order to be useful, genetic data needs to be linked to some information about the health of the person that it came from (or scientists and clinicians using databases will not know whether finding a particular variant in another person is evidence for or against it causing disease).

There are potential risks for people in sharing their data in that, however scrupulously it is anonymised, it is not possible to entirely remove a risk that a person could be identified from their genetic data. A further consideration is that a person choosing to share their data may have consequences for their wider family, who have not necessarily chosen to share their data, as given sequence data from sufficient people you can predict the sequence data of others. For example, if two people in a family provide genomic data, you can deduce that any rare variants present in those two people must also be present in all the relatives who directly connect them.

Ethically, it is irresponsible for a health service to sell medical tests without fully understanding the expectations and understandings of consumers that are at the basis of their decision to purchase such a test. Research has found that, when asked what kind of information they would like to receive from a genetic test, the majority of patients say they want to know everything, without fully knowing what that entails. Without mapping and subsequently managing consumers’ expectations before selling such a test, the NHS would just be profiting from a culture in which genetic testing is widely misrepresented as being able to unambiguously predict and mitigate health risks.

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