Call for evidence outcome

Results of the Code on Genetic Testing and Insurance call for evidence

Updated 25 April 2024

Executive summary

In July 2023, the Department of Health and Social Care (DHSC) launched a call for evidence on the Code on Genetic Testing and Insurance (‘the Code’).

The Code is an agreement between the UK government and the Association of British Insurers (ABI) on the use of genetic test results in underwriting insurance policies. 

Genetic testing finds changes in genes that can cause health problems. In healthcare, it is mainly used to diagnose rare and inherited health conditions and some cancers.

The aim of the call for evidence was to gather views on:

• whether the definitions for genetic tests used in the Code remained up to date
• a framework for assessing whether a predictive genetic test should be required to be disclosed under the Code

It was open for 12 weeks and received 57 responses from organisations, professionals and members of the public answering in a personal capacity.

Approximately two-thirds of respondents felt confident in identifying whether a genetic test would be categorised as predictive or diagnostic. However, there were a variety of views on how the current definitions could be improved and about tests which did not fit into either category accurately. Respondents wanted guidance where there might be ambiguity about whether any genetics test were predictive or diagnostic. Respondents also commented that the Code’s current definitions could benefit from genetic test examples to aid understanding.

Almost three-quarters of professionals and organisations identified several genetic tests which they felt were difficult to classify as either predictive or diagnostic. They also expressed views that some genetic tests had the capability to act as both predictive and/or diagnostic depending on the context of the test and underlying health of the subject.

Almost three-quarters of all respondents had concerns about genetic testing and accessing private insurance. The concerns ranged from the avoidance of genetic tests due to fear of cost and accessibility of private insurance, the impact on family members of positive predictive test results, as well as concerns about a growing list of exempt conditions within the Code.

Respondents provided mixed feedback on the sufficiency of the framework as an addition to the Code. An opinion which some respondents had on improving the framework was removing the question, ‘How many people take the test?’ They felt this was not relevant to the consideration of whether a genetic test should be included or excluded from the list of exemptions. Respondents were keen that any decisions and consultations about conditions were transparent and had high levels and a variety of engagement from experts and medical professionals.

A small majority (54%) of respondents felt the addition of the framework would improve the decision-making process. They specified that structure and transparency were paramount for any future changes to the exemption list in the Code and wanted the framework to ensure that individuals were not harmed for the benefit of insurers.

Almost two-thirds (63%) of respondents felt that there could be unintended consequences of adopting the framework into the Code. These varied from widespread impact due to potential avoidance of genetic tests, such as increased costs for the NHS to treat advanced conditions which were not caught early with predictive tests, to the impact on affected individuals who may find variation in offers of private insurance. Several mentioned that consequences could be felt inequitably, with some people with particular conditions more likely to face discrimination.

Several approaches to developing an evidence base to improve the Code were suggested, such as looking to other countries to see what approaches they take to disclosure of predictive genetic test results to insurers. Some respondents suggested the exemption list for the Code be removed entirely, meaning the removal of Huntington’s disease from the current exemption list. Others felt that disclosure of negative predictive results could be used to reduce insurance premiums and incentivise testing. Another approach mentioned was increased collaboration throughout the decision-making process to ensure experts and wider stakeholders have a say in any changes which may be made to the Code in the future.

Introduction

In July 2023, DHSC launched a call for evidence on the Code on Genetic Testing and Insurance.

The Code - introduced in 2018 - is a voluntary agreement between the UK government and ABI. It explains whether and how genetic tests can affect access to life, critical illness and income protection insurance in the UK.

Genetic tests find changes in genes that can cause health problems. In healthcare, they are mainly used to diagnose rare and inherited health conditions and some cancers. The Code defines genetic tests as either:

• diagnostic - these confirm or rule out a diagnosis based on existing symptoms, signs, or abnormal non-genetic test results, which indicate that the condition in question may be present
• predictive - these predict a future risk of disease in individuals without symptoms of a genetic disorder

Under the Code:

• an insurer should not require or pressure an applicant to undertake a predictive or diagnostic genetic test in order to obtain insurance
• the results of a predictive genetic test can only be considered in insurance applications if the Code states that the specific predictive genetic test may be considered and the sum assured exceeds the financial limits set out in the Code

At present, the only exception where insurers may ask for, and consider, the result of a test is where a person has had a predictive genetic test for Huntington’s disease and is applying for life insurance which totals over the financial limit of £500,000. Any predictive test results obtained through participation in research do not need to be disclosed.

In 2021, ABI commissioned the Cambridge Centre for Health Services Research (CCHSR) to undertake research to identify the current and potential impacts of developments in genetic testing on the UK insurance industry. Central to this research was the development of a framework to provide a structured approach to monitoring and assessing developments in genetic testing. This was intended to provide a transparent basis on which to evaluate the potential impacts of a predictive genetic test on the insurance industry (either currently or in the future) and understand the key factors that may influence this.

In 2022, the first triennial review of the Code looked at changes in the genomics landscape and highlighted specific issues raised by stakeholders. This call for evidence sought to explore these issues further to determine whether revisions to the Code may be needed.

Specifically, this call for evidence sought views on:

• how the categories of ‘predictive’ and ‘diagnostic’ are understood and used in current practice and whether and how the definitions should be updated to ensure they remain clear and useful
• concerns held in relation to the disclosure of predictive test results and impact on affordable insurance
• whether and how the framework could complement the current process for deciding whether predictive genetic tests for conditions should be disclosed or removed from the exemption list under the Code in the future

The current process for making changes to the list of predictive genetic tests that must be disclosed under the Code involves a written submission from ABI to the government, which includes evidence to demonstrate:

• the condition is well understood and carries an increased risk of significant morbidity and/or mortality
• a predictive genetic test is available, which meets certain standards
• there is a high risk that individuals buying insurance, based on information that insurers do not know, would influence insurance markets and impact individual premiums for other consumers if not addressed

Such an application would be followed by a stakeholder engagement process and independent peer review by a panel of experts. The government would then communicate a decision within 6 to 12 months of the application, after which a revised version of the Code (if applicable) would be published.

If, moving forward, the framework developed by CCHSR were to be adopted, it would not replace this process but instead be used by ABI to systematically collect and present information when requesting amendments.

To date, ABI has not made any applications for additions to the Code.

Methodology

Format

This call for evidence took the form of a survey on GOV.UK for 12 weeks, from 25 July to 17 October 2023.

It was open to individuals aged 16 and over (including those with genetic conditions, family members and carers), as well as professionals and organisations.

The survey included closed tick-box-style questions, as well as open-ended questions where respondents could leave detailed comments.  

Analysis

To analyse the responses, we:

• produced summary data tables of the closed question responses, combining similar response options (such as, ‘strongly agree’ and ‘agree’) where necessary to protect the anonymity of respondents
• used inductive analysis techniques to identify and consider the range of views and suggestions left by respondents to the open-ended questions

Caveats

When reading this report, it is important to note the following caveats.

The results are based on a relatively small number of responses. While this might be expected considering the specialist area, care must still be taken in interpreting the results as they may not be fully reflective and/or representative of any group and do not represent an effective sample of the wider population. DHSC intends to supplement the results of this call for evidence through stakeholder workshops.

Where respondents have made seemingly factual statements (for example, pertaining to scientific definitions or genetic testing processes) we have verified these, as far as possible, with a clinical geneticist. Where there were apparent discrepancies between definitions suggested by respondents and those made by the clinical geneticist, we have made this clear in our analysis.

The suggestions and recommendations in this report represent the views of those who responded to our survey - we recognise there may be alternative views on specific issues and the inclusion of these does not mean they are endorsed or accepted by DHSC or government.

Results

Overall, 57 responses were submitted to this call for evidence. We have summarised the results under the following headings:

• respondent type
• identifying diagnostic and predictive tests
• disclosure of results and impact on insurance
• a framework to guide decision-making

Respondent type

As shown in table 1, most respondents were sharing their views as a professional (51%) or on behalf of an organisation (30%). These included, for example, academics, insurance and healthcare experts and organisations, and charities operating within the UK. The remaining 19% of responses were submitted by individuals who wanted to share their personal views and experiences.

Table 1: In what capacity are you responding to this survey?

Answer	Count	Proportion
An individual sharing my personal views and experiences	11	19%
An individual sharing my professional views	29	51%
On behalf of an organisation	17	30%
Total responding	57	Not applicable

Identifying diagnostic and predictive tests

Self-reported ability to differentiate tests

Overall, respondents felt slightly more confident in identifying a diagnostic test (with 67% agreeing) compared to a predictive test (with 61% agreeing). A full breakdown of results is shown in tables 2 and 3 below.

Table 2: To what extent do you agree or disagree that you could identify when a genetic test is a predictive test (using the definitions provided in the Code)?

Answer	Count	Proportion
Strongly agree or agree	35	61%
Neither agree nor disagree	6	11%
Strongly disagree or disagree	16	28%
Total responding	57	Not applicable

Table 3: To what extent do you agree or disagree that you could identify when a genetic test is a diagnostic test (using the definitions provided in the Code)?

Answer	Count	Proportion
Strongly agree or agree	38	67%
Neither agree nor disagree	6	11%
Strongly disagree or disagree	13	23%
Total responding	57	Not applicable

Improving current definitions

We asked respondents what could be done to help identify a genetic test as predictive or diagnostic. Sixteen respondents chose to answer this question.

The 3 main points raised were as follows.

The terminology used in the Code could be more precise:
for example, the Code refers to genetic and genomic tests interchangeably, and it should be clearer whether both are in scope. Some respondents suggested that the definitions and terminology used in the Code should undergo expert review to remove ambiguity.

The presence or absence of symptoms may not be sufficient to determine whether a test is diagnostic or predictive in nature:
to address this, some respondents suggested adding test examples to the existing definition to aid understanding and reduce variation in interpretation. Other respondents suggested placing a greater focus on the underlying biological processes of disease rather than the arbitrary threshold of whether it is detectable through symptoms. For example, one respondent referenced spinal muscular atrophy, for which the abnormal gene expression occurs when the genetic makeup of the individual is formed and felt it was unclear how a predictive test could work for this specific disease given it is inherent from before birth.

Respondents noted some confusion around the existing definitions as tests can be predictive or diagnostic depending on context:
respondents suggested that one solution was for providers of genetic tests to highlight whether the test is acting in a diagnostic or predictive manner prior to testing. Respondents also wanted clarity on the predictive power of the genetic test in question, for example, they wanted to be provided with a level of likelihood that a positive test result would indicate that the condition would develop.

Use of predictive and diagnostic tests in practice

The following question was seeking the views of healthcare professionals. All professionals and those answering on behalf of organisations who responded to our call for evidence answered this question and almost half (48%) said that they use more than just the 2 categories of ‘diagnostic’ and ‘predictive’ in their area of practice (table 4).

Table 4: Are the categories ‘predictive’ and ‘diagnostic’ genetic testing used in your area of practice?

Answer	Count	Proportion
Yes, only these categories are used	10	22%
Yes, but other categories are used as well	22	48%
No or not applicable	14	30%
Total responding	46	Not applicable

There were a range of other categories used by respondents. Some used different labels to describe the same type of test, while others used the same labels, but their description of the function or purpose of the test was different. This suggests that clearer definitions and/or examples are necessary to ensure accurate and consistent interpretation of guidelines.

The main categories mentioned by respondents are listed below, in alphabetical order. Where different descriptions of tests were put forward by respondents, we have used the one deemed most factually accurate by a clinical geneticist who we consulted after analysing the results.

Carrier testing and/or carrier screening - to determine if a person ‘carries’ a genetic variation for a specific condition or disease

Some used the term ‘carrier’ in relation to recessive conditions, for example, an individual who has one copy of the variant gene for a disease or condition, but where only those with 2 variant copies are required to have the disease or condition (such as in the case of cystic fibrosis). Others used the term ‘carrier’ to describe people with a variant in a dominantly inherited condition who have not yet developed the associated cancers, For example, those with BRCA1 or BRCA2 who have not yet developed the associated cancers. Carrier ‘testing’ was used when there was a known family history of the variant, for example, while carrier ‘screening’ was used to indicate the offer to a population.

Confirmation testing

This confirms a previous test, often using different techniques to check it is a true positive (or negative) result.

Couple testing or pre-conception carrier testing

Testing for autosomal recessive conditions - offered to couples before embarking on a pregnancy. Only where both members of a couple are carriers of the same ‘recessive’ genetic condition, do they have an increased (1 in 4) chance of their children being affected by the condition.

Founder variant testing

Testing for specific variants within a specific population that is known to have an increased frequency of that variant.

Low-penetrance variant

Penetrance refers to the chance that people with a given genetic variant will develop the associated condition. Twenty years ago, when guidelines on insurance and testing were first drawn up only highly penetrant variants (such as, Huntington’s, BRCA1 and BRCA2,) were available for testing. For the testing available today, many variants have a much lower penetrance - a person’s chance of developing the condition if they have the variant might be increased, but there might be a greater chance of never developing the condition.

Pharmacogenetics or genomics

The study of genetic variation and how it affects an individual’s reaction to certain medicines or drugs.

Polygenic risk scores

Polygenic scores combine information from multiple genetic variants into a single score that can be used to examine parts of overall risk to a condition. They generally predict much less strongly than predictive tests for rare single genes and so perform more like low penetrance variants (see above).

Familial testing, also sometimes referred to as cascade testing

Where testing is performed in individuals from a family in whom a genetic condition has been found or is suspected.

Somatic testing

To look for acquired mutations in a set of cells or tissue, such as a tumour.

Germline testing

To look for mutations in the germline and are therefore heritable.

Other labels used by respondents included ‘pre-symptomatic’ and ‘asymptomatic’ testing to refer to predictive testing, or ‘susceptibility’ testing to refer to more subtle predictions.

Tests that may not be identifiable as either predictive or diagnostic

We asked organisations and professionals to tell us if there are any genetic tests where it is unclear if they should be classified as predictive or diagnostic under the Code. Of the 43 who answered this question, 72% said yes (table 5).

Table 5: Do you think there are any genetic tests in existence where it is unclear to you whether they would be classified as predictive or diagnostic?

Answer	Count	Proportion
Yes	31	72%
No	5	12%
I don’t know	7	16%
Total responding	43	Not applicable

We then asked which tests, if any, they thought were not identifiable as just predictive or diagnostic. Thirty respondents chose to answer this question - some focused on broader categories of tests, while others citied specific tests for a specific purpose.

Carrier testing and couple testing were both mentioned as types of tests for which categorisation as either diagnostic or predictive is unclear, since those being tested may not be affected by the condition nor be symptomatic, but their offspring could be impacted and later be diagnosed. Individuals may also be unaware of how predictive powers can vary according to the gene variant tested, for example, an individual with only one copy of the cystic fibrosis transmembrane conductance regulator variant will have a positive test result but will not go on to develop cystic fibrosis, whereas a person with one BRCA1 variant will have an increased lifetime risk of developing breast cancer (and other associated cancers).

Some respondents mentioned other tests which can be both diagnostic and predictive. For example, trio analysis may be diagnostic for a child, but predictive for one or other parents. Respondents also mentioned that the classification of polygenic risk scores may be unclear. Even though there are no conditions for which a polygenic risk score could be diagnostic, it was cited as an example of a test that blurs the boundaries between predictive and diagnostic and has the potential to be misunderstood.

Other tests and/or techniques for which respondents felt identification as either a predictive or diagnostic test was or would be unclear were pre-natal testing, new-born blood spot testing, ‘cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy’ testing, familial hypercholesterolaemia testing, and pharmacogenomics. It is worth noting that not all of these currently fall within scope of the Code, suggesting further clarification about the remit of the Code may be necessary.

Disclosure of results and impact on insurance

We asked all respondents if, from their understanding of the Code, they have any concerns about genetic testing and accessing private affordable insurance. Of the 57 respondents who answered, 61% said they do have concerns (table 6).

Table 6: From your understanding of the Code, do you have any concerns about genetic testing and accessing private affordable insurance?

Answer	Count	Proportion
Yes	35	61%
No	14	25%
I don’t know or not applicable	8	14%
Total responding	57	Not applicable

Thirty-four of the 35 respondents who answered ‘yes’ went on to provide examples of the concerns they held.

One set of concerns related to the avoidance of genetic tests. For example, individuals most at-risk may avoid taking a genetic test if:

• they know that they would have to disclose a positive, predictive test result that would lead to unaffordable or denied insurance
• their children had to disclose the predictive or diagnostic test results of their parents in applying for their own insurance

Some respondents went further by suggesting this could lead to avoidance of all kinds of medical tests, including non-genetic tests and participation in research.

Another set of concerns related to the interpretation and use of test results. Some respondents questioned the ability of insurers to fairly interpret test results and make well-informed decisions. For example, in the case of individuals who have a positive predictive genetic test result, but are asymptomatic or managing their condition well, and in the case of individuals with complicated and/or rare genetic conditions.

Other respondents felt that if individuals did not have to disclose genetic test results, insurance premiums could increase for everyone purchasing insurance regardless of whether they had taken tests. They felt if insurers did not know who was at risk, they would increase prices across the board leading to unsustainable costs and levels of coverage. A few respondents went further in suggesting that negative predictive genetic test results should be disclosed to reduce insurance premiums, helping incentivise people to test.

Erosion of insurance coverage was another concern raised. Some respondents were worried that genetic testing could impact access to and the cost of other types of insurance, such as travel or life insurance. In line with this, many respondents were concerned about an increasing number of conditions being exempt from the Code, meaning a greater number of disclosures of positive predictive test result and decreasing access to comprehensive insurance policies.

Finally, several respondents raised specific concerns about testing for Huntington’s disease. Since Huntington’s is currently the only predictive genetic test requiring disclosure to gain life insurance, some respondents felt the Code is acting in a discriminatory manner. Those at risk of developing Huntington’s may be disincentivised from taking a predictive test due to implications about accessing insurance, while individuals at risk of diseases with often similar penetrance and disease progression (such as familial prion disease and motor neurone disease) may be concerned about them being added to the exemption list in the future.

A framework to guide decision-making

Appropriateness of the framework’s questions

Respondents were asked if the questions contained in the framework developed by CCHSR are sufficient to identify whether predictive genetic tests should be included in (or excluded from) a list of exceptions within the Code. Feedback was mixed: 35% thought they were, 45% thought they were not and 20% neither agreed nor disagreed (table 7).

Table 7: To what extent do you agree or disagree that the questions in the framework are sufficient to identify which predictive genetic tests should be considered for inclusion or exclusion from the list of exceptions in the Code? ‘Exemptions’ means predictive genetic tests that applicants must disclose to insurers when applying for insurance.

Answer	Count	Proportion
Positive (strongly agree or agree)	19	35%
Neither agree nor disagree	11	20%
Negative (strongly disagree or disagree)	25	45%
Total responding	55	Not applicable

We then asked if other questions should be added to the framework, to which 39% of respondents answered ‘yes’ (table 8).

Table 8: Are there any other questions that you think should be included in the framework?

Answer	Count	Proportion
Yes	22	39%
No	16	28%
I don’t know	19	33%
Total responding	57	Not applicable

We asked respondents to explain their answers, and to share any other factors they think should be considered when determining the appropriateness of the framework to guide future decisions.

In summary, respondents suggested that further detail could be added to the framework on:

• how ‘quality of life’ is and/or should be assessed and quantified
• how the impact of a condition might vary depending on if it is detected at an early or late stage and what is known about disease progression
• the physiological and psychological impacts of the condition (including the impact of any treatment) and the surveillance options available
• the wider effect of the condition, such as its inheritance pattern and impact on an individual’s family
• classifications of specific genetic tests, be they diagnostic or predictive, and the specific scenarios for which classification could change
• the accreditation of tests, for example, whether it is accredited by the Medicines and Healthcare products Regulatory Agency, Centres for Disease Control and Prevention, Food and Drug Administration or NHS, which could increase confidence in the validity and reliability of test results

Some respondents challenged the appropriateness of the framework question ‘How many people take the test?’ in determining whether a condition should be added to the Code’s exemptions list. They felt that the number of people taking a certain predictive genetic test was likely to have been affected by other factors, such as cost, test accessibility, how rare or common a genetic condition is and likelihood of test avoidance.

Other respondents called for greater flexibility to alter the current threshold of £500,000 for a life insurance policy for those with a positive predictive result for Huntington’s, given the changing economic climate. Some went further in suggesting that Huntington’s being the singular exemption in the Code would need to be retrospectively supported by the framework, or removed if it did not meet the criteria.

Across all these points, respondents emphasised the need for transparency - ensuring that conditions under consideration for exemption are public knowledge and the evidence behind their inclusion or exclusion is also available.

Impact of adopting the framework

Impact on decision-making

We asked respondents if they felt that adding the framework to the Code would improve the decision-making process around whether new conditions should be added to the list of exemptions. Of the 56 respondents who answered this question, just over half (54%) felt that it would (table 9).

Table 9: To what extent do you agree or disagree that the addition of the framework will improve the decision-making process?

Answer	Count	Proportion
Positive (strongly agree or agree)	30	54%
Neither agree nor disagree	18	31%
Negative (strongly disagree or disagree)	8	15%
Total responding	56	Not applicable

Twenty-six respondents chose to explain why they felt the addition of the framework would (or would not) improve the decision-making process.

The main points made were that:

• it could provide structure and add transparency to the process of deciding if a predictive result for a condition should be exempt from disclosure to insurers
• clearer definitions would need to be added to the framework, especially when talking about ‘risk’
• the framework should work in theory, but test scenarios should be modelled to ensure it works in practice and is not unfairly weighted in favour of insurers
• whether the framework improves the process is dependent on public and expert engagement and understanding and consistent and rigorous application of it
• even if the framework improves the process, the likelihood of it being utilised to change the list of exemptions is low

Unintended consequences

We then asked respondents if there could be any unintended consequences as a result of adopting the framework. Nearly two-thirds of respondents (63%) felt there could, with only 7% saying there would be none (table 10).

Table 10: Do you think there could be any unintended consequences as a result of adopting the framework?

Answer	Count	Proportion
Yes	36	63%
No	4	7%
I don’t know	17	30%
Total responding	57	Not applicable

Respondents had the option of explaining what they thought the unintended consequences of adopting the framework could be.

Thirty-two respondents left a comment and while some raised concerns about the framework specifically, others used this space as an opportunity to raise broader concerns about adding more conditions to the list of exemptions in the Code.

In summary:

• some felt that the impact of the Code on access to insurance is relatively limited in reach, mainly affecting people with a positive predictive test result for Huntington’s. If the framework encourages greater consideration of other tests that are ultimately added to the exemptions list, then many more people will be impacted
• if the reach of the Code is expanded to require more test results to be disclosed to insurers, there is an increased risk that people will avoid taking potentially lifesaving and life-altering genetic tests. In turn, this could lead to increased morbidity and mortality and an increased cost burden on the NHS in treating more people with late-stage genetic conditions
• with respect to research studies and trials, there may be an added cost-burden in training or retraining research and clinical staff to ensure they understand the specifics of the genetic test they are undertaking and potential consequences for participants when gaining informed consent. There is also a risk that people become less likely to volunteer to participate in research studies if there is a perceived (if not real) concern that this information could impact access to insurance
• the framework may hinder the ability of the Code to adapt to medical advancements at pace, as it adds another layer to the decision-making process. Some respondents felt there should be a contingency mechanism in place to agree changes rapidly where needed
• it is unclear whether any new conditions added to the exemptions list would need to be retrospectively disclosed to insurers and the impact of that was felt to be, as yet, unquantified
• there needs to be greater recognition of the different impact the Code and changes to the exemptions list, may have on access to health insurance compared to life insurance. For example, not being able to access life insurance can result in barriers for other financial products such as mortgages and could therefore have a greater impact on the individual (and their family)

Alternatives to the framework

We asked all respondents if there were other approaches that they thought should be considered instead of, or alongside, the framework developed by CCHSR.

Twenty respondents answered this question, and most cited the need for increased collaboration with a broader range of stakeholders to further develop the framework and consider any future adaptations to the Code. This included, for example, input from clinicians, the voluntary sector, representatives of disease groups, the medical workforce, the insurance industry, greater engagement with the public and experts from other countries who may be able to offer insight on alternate approaches.

A smaller proportion of respondents said that it would be simpler and more equitable to amend the Code so that no predictive genetic test results need to be disclosed to insurers, including Huntington’s disease.