Corporate report

Code on Genetic Testing and Insurance: the government's annual report 2023

Published 18 January 2024

Introduction

The Code on Genetic Testing and Insurance (the code) was published in October 2018, replacing the Concordat and Moratorium on Genetics and Insurance. The code is a voluntary agreement between the government and the Association of British Insurers (ABI), whereby insurers who are signed up to the code will:

• never require or pressure any applicant to undertake a predictive or diagnostic genetic test
• only consider the result of a predictive genetic test for a very small minority of cases

To date, there is only one test for which insurers can request disclosure of results, which is a predictive genetic test for Huntington’s disease, in applications for life insurance cover that total over the financial limit of £500,000.

The UK government is of the view that it’s important everyone has access to good insurance at the right price. The code aims to provide reassurance to the public about how and whether genetic testing could affect their access to life, critical illness and income protection insurance products in the UK.

Annual reporting

The code is open-ended with no expiry date. To ensure that the code remains fit for purpose, the government and ABI have agreed to publish annual reports to provide commentary on the state of the market and developments in genomic medicine, as well as reviewing compliance with the code. Three-yearly reviews will allow for the code to be kept up to date.

This is the government’s fourth annual report under the code. It provides an update on the changes in the genomics policy landscape since the publication of the first triennial review of the code in December 2022. It sits alongside ABI’s annual report, which includes information on compliance as well as additional relevant information on the insurance market.

Genomics policy landscape

The UK is a world leader in genomics and, in 2020, the government published its 10-year genomic healthcare strategy, Genome UK: the future of healthcare, which sets out the government’s vision to create the world’s most advanced genomic healthcare ecosystem in the world, to deliver better healthcare at lower cost. The investment made by the UK government and NHS in genomics over the last decade has laid the foundations for the use of genomics in routine clinical care.

In October 2022, NHS England published Accelerating genomic medicine in the NHS, the first NHS genomics strategy to outline the vision for embedding genomics in the NHS over the next 5 years. The strategy is delivered through 4 priority areas:

1. Embedding genomics in the NHS through a world-leading innovative service model.
2. Delivering equitable genomic testing for improved outcomes in cancer and rare, inherited and common diseases.
3. Enabling genomics to be at the forefront of the data and digital revolution.
4. Evolving the service through cutting-edge science, research and innovation.

The UK government continues to invest in genomics to ensure that patients across the UK can benefit fully from genomic healthcare through a more preventative approach, faster diagnosis, and personalised and better treatment, leading to better long-term outcomes.

This year, 2023, has seen the field of genomics continue to evolve, improving our understanding of genomic medicine. This report highlights some of the progress made since the 2022 review of the code.

Genome UK: implementation plans              

In December 2022, the government published the latest Genome UK: 2022 to 2025 implementation plan for England, which sets out specific commitments on delivering cutting-edge genomic technology to speed up diagnosis and improve treatment options. The plan announced new investments into the following research studies: 

• £105 million for the ‘Generation Study’, led by Genomics England in partnership with the NHS, to evaluate the feasibility of using whole genome sequencing to diagnose rare genetic conditions in newborns, potentially resulting in life-saving interventions for thousands of babies
• £22 million for Genomics England to tackle health inequalities and improve patient outcomes in genomic medicine by sequencing the genomes of 15,000 to 25,000 participants from diverse backgrounds by 2025 and carrying out extensive community engagement
• £26 million for an innovative cancer programme, led by Genomics England in partnership with the NHS, to evaluate cutting-edge genomic sequencing technology to improve the accuracy and speed of cancer diagnosis

The Office for Life Sciences works closely with Genome UK delivery partners, and progress on implementation is regularly reported to governance groups such as the:

• Life Sciences Council
• Life Sciences Council Delivery Board
• National Genomics Board

Genomics in Wales, Scotland and Northern Ireland

The Genomics delivery plan for Wales 2022 to 2025 has been published, detailing how Genomics Partnership Wales will continue to work, in partnership with the Welsh Government and other stakeholders, to harness advances in the understanding and application of genomics to transform public health strategy and delivery of care. Commitments include creating a Canolfan Iechyd Genomig Cymru (CIGC) (Wales Genomic Health Centre) and sequencing up to 3,000 whole genomes annually within the next 3 years.

The Scottish Government has published Genomics in Scotland: building our future, which sets out the intention for genomic medicine in Scotland in the years ahead. A 5-year genomic medicine strategy for Scotland and associated implementation plans will be published in due course. Work is also ongoing to establish the Scottish Strategic Network for Genomic Medicine, which aims to bring together genomics expertise and interest from across the NHS, academia, industry and the third sector under a single network in order to achieve better patient outcomes and more efficient service delivery models in Scotland.

In Northern Ireland (NI), plans to establish a Genomics Partnership and to develop an implementation plan in line with Genome UK strategic commitments remain subject to the availability of funding. While the NI Assembly remains suspended at the current time, the NI Department of Health issued a statement of intent in October 2022 affirming its commitment to further advancing work on genomic medicine within the health and social care system. The statement notes that work is already helping to transform healthcare and improve treatment for rare and infectious diseases and cancer.

With genomic testing set to become part of routine clinical care, it’s important to note that the code states that insurance companies cannot require or pressure any applicant to undertake a predictive or diagnostic genetic test to obtain insurance.

Rare conditions

Genomics has the enormous potential for increasing diagnosis of rare conditions, as 80% have a strong genetic component. This in turn, could help patients receive a final diagnosis faster and receive appropriate treatment and support. The 2021 UK Rare Diseases Framework outlined the high-level direction for rare diseases. Each of the 4 UK nations has since published specific action plans providing more detail on the steps each government will take to meet the shared priorities of the framework.

In February 2023, England published its second action plan, the England Rare Diseases Action Plan 2023, which reported on progress made to deliver the commitments in the 2022 action plan and set out new actions for the year ahead.

Significant progress has been made since the publication of the 2022 rare diseases action plan in using genomics to improve diagnosis. An example of this is the identification and return of over 1,000 new and complex diagnoses for people with rare diseases to the NHS, via the Genomics England clinical research interface. This work continues to be built upon in the 2023 action plan by increasing genomic data sharing between NHS England, the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), and Genomics England for patient benefit. This will improve understanding of equity of access to genomic testing and support interpretation of genomic test results.

The process of the other devolved nations refreshing their plans is underway, with Wales due to publish its plan alongside its progress report by the end of 2023. Collaboration between the nations has demonstrated a drive to increase data sharing across all NHS healthcare systems. We are striving to make this and additional artificial intelligence (AI) technology a reality to support enhanced diagnostic rates and ultimately improve patient benefit. The SWAN (syndrome without a name) pilot in Wales is a key example of how innovative approaches can be used to understand the underlying diagnosis of those who have not received a genetic diagnosis through conventional service provision.

Commitments to further developing Northern Ireland’s genomics capabilities are also set out within the Northern Ireland Rare Diseases - Action Plan, published in March 2022.

In September 2023, the Rare Diseases Research Landscape Project Report was published to better understand the current rare disease research landscape. The report shows the UK’s strengths, outlining rare disease research taking place across the UK over a 5-year period, and highlights cases of research advancing clinical practice using genomics for rare conditions. The report findings will help focus areas for future research funding and better target the needs of people with rare conditions.

Advanced therapies

Advanced therapies, which are also referred to as advanced therapy medicinal products (ATMPs), are a transformative new category of medicines. They are a type of medicinal product based on cells, genes and tissues. It’s expected that the number of new advanced therapies will increase significantly over the coming years. Advanced therapies have the potential to significantly improve clinical outcomes and life expectancy, offering the opportunity to halt the progression of, or prevent, conditions that currently have poor or no effective treatment, such as rare diseases and cancers.

The UK is already a world leader in the provision of advanced therapies to patients, with the NHS commissioning 12 advanced therapies for patients since 2016. In February 2023, a patient became the first in the UK to receive the life-saving gene therapy atidarsagene autotemcel (Libmeldy®) for metachromatic leukodystrophy (MLD). MLD is a genetic disease that causes severe damage to the affected person’s nervous system and organs, resulting in a life expectancy of between just 5 and 8 years. The treatment works by removing the child’s stem cells and replacing the faulty gene that causes MLD, before re-injecting the treated cells into the patient.

As the efficacy and availability of advanced therapies continues to develop, this may impact both the genetic testing landscape (as certain therapies will require a diagnostic genetic test to determine eligibility), and the long-term prognosis for certain genetic conditions, should a therapy for the condition become available - for example, genetic conditions where predictive genetic tests may be used.

When assessing if a predictive genetic test for a particular condition needs to be disclosed under the code, there needs to be evidence that the condition would lead to a materially increased likelihood of significant morbidity and/or mortality. While current progress in advanced therapies has no immediate impact on the code, future developments will be monitored in subsequent annual reports.

Genomic research

There have been significant improvements to the way genomics is used to diagnose patients, stemming from the success of the 100,000 Genomes Project. The NHS Genomic Medicine Service was the first clinical service in the world to offer whole genome sequencing (WGS) as part of routine care for certain patients. The UK aims to build on these successes through ground-breaking research using genomics to provide increased insight into our health.

It’s important to remember that, under the code, any predictive genetic test result obtained exclusively in the context of scientific research does not need to be disclosed to an insurer, regardless of the test or the level of cover. This applies to the research studies mentioned here.

Our Future Health

Our Future Health looks to build a resource to help researchers develop and test new ways to prevent, detect and treat disease. The programme will collect and link multiple sources of health and lifestyle information, including genetic data and health records, across a cohort of up to 5 million adult volunteers that reflect the diversity of the UK’s population. This detailed picture of the nation’s health will help advance translational science and ensure new discoveries benefit everyone equally.

The programme plans to evaluate the clinical utility of integrated risk scores (IRS), which combine the impact of many variations across the genome on an individual’s risk of developing a given disease with environment, lifestyle and health data.

Since recruitment began in October 2022, Our Future Health has launched over 100 clinics, recruited over 850,000 consented participants and collected blood samples from over 370,000 participants. The programme has plans to expand recruitment into all 4 nations of the UK, and enable researcher access to the data in an accredited and secure environment. It is also planning the strategy and feasibility of personal feedback about the risk of common diseases to participants.

Detecting cancer through a single blood test

The NHS-Galleri research trial, supported by NHS England, looks at GRAIL’s Galleri® blood test, a multi-cancer early detection test. Galleri screens for a signal associated with active cancer - it checks more than 100,000 DNA regions and over a million specific DNA sites to screen for a signal shared by multiple cancers. The Galleri test looks for cell-free DNA and identifies whether it comes from healthy or cancer cells. DNA from cancer cells has specific methylation patterns that identify it as a cancer signal. Methylation patterns also contain information about the tissue type or organ associated with the cancer signal to guide next steps.

The trial, launched in September 2021, has recruited around 140,000 volunteers aged 50 to 77 and has now entered its final year. If the trial is successful, the NHS may decide to offer up to one million tests in England as part of a pilot to screen for cancer, alongside existing national cancer screening programmes. Any wider full rollout of the test in the future would then be for the UK National Screening Committee to consider - it could lead to earlier detection and treatment of cancers, improving population health. The full results of the study are expected to be published in 2026. 

UK Biobank

UK Biobank is a large-scale biomedical database and research resource. It contains in-depth genetic and health information from half a million consenting UK participants aged between 40 and 69 years old. The database can be used by approved researchers and scientists across the world undertaking vital research into the most common and life-threatening diseases. It’s important to note that UK Biobank is a resource for research purposes only - it does not provide participants with health feedback such as genetic test results.

The benefits of the UK Biobank are evidenced by a landmark study^{[footnote 1]} that measured nearly 3,000 circulating proteins from over 54,000 participants in the UK Biobank to assess the effects of common genetic variation on circulating proteins and how these associations can contribute to disease. The study identified over 14,000 associations between common genetic variants and proteins circulating in the blood, over 80% of which were previously unknown.

This data set is the world’s largest and most comprehensive study on the effects of common genetic variation on proteins circulating in the blood and how these associations can contribute to disease. It will help scientists better understand how and why diseases develop, which could help drive the development of new diagnostics and treatments for a wide range of health conditions. Other future innovative work expected to result from this study includes:

• using proteins circulating in the blood to predict whether someone will develop a disease several years before the condition occurs
• classifying diseases into distinct biological subtypes
• using proteins in the blood to predict drug efficacy and safety prior to clinical trials

Scientists will be able to access this data through the UK Biobank. While advances in our understanding of proteins in a health context have no immediate impact on the code, future developments will be monitored in subsequent annual reports.

NIHR BioResource

The National Institute of Health Research (NIHR) recognised the lack of participants for research was a barrier to medical improvement. In 2007, it established the BioResource, a national health resource with a mission to help scientific discoveries to move more quickly from the lab to patients. Since then, the BioResource has recruited more than 250,000 volunteers who have participated in more than 300 health research studies in academia, the NHS and industry. There are currently 18 local BioResource Centres across England, each connected to the corresponding local NIHR Biomedical Research Centre, which conduct health research.

BioResource volunteers provide samples and access to health records, and complete questionnaires to help researchers better understand how genetics and environment impact health. Each volunteer’s sample is depersonalised (personal details removed and assigned a unique ID) and is used in research alongside many others. It is a true donation to science and volunteers do not receive feedback on their genetic information. As such, no data is available that could be impacted by the code. This summer, the NIHR BioResource made a major contribution towards children’s health research, in particular, with the launch of the world’s first national childhood DNA health research programme open for all children and young people with and without health conditions, the DNA, Children + Young People’s Health Resource (D-CYPHR).

The D-CYPHR programme is open to all 14 million children in the UK and aims to pioneer urgently needed research for the next generation. It will tackle the growing challenges of rising mental health conditions and environment-affected diseases such as heart disease and type 2 diabetes.

Pharmacogenetics

Genomics has the potential to match people to the most effective medications and interventions, reducing the likelihood of an adverse drug reaction. The Medicines and Healthcare products Regulatory Agency, in collaboration with Genomics England, is conducting a research pilot to create a Yellow Card biobank. This biobank will identify how genetic makeup can impact the safety of patient’s medicines.

The Yellow Card biobank will contain patient health data, genetic data and patient samples. It’s hoped this biobank could be used by scientists to determine whether a side effect from a medicine was caused by specific genetic traits, which in turn could enable doctors to target prescriptions using rapid screening tests. The Yellow Card biobank pilot began in June 2023 and is focused on 2 important safety topics, with initial research findings from the pilot due to be published in 2025.

Public engagement

In 2022, the Department of Health and Social Care conducted the first 3-yearly review of the code, in collaboration with ABI.

The review was based on an assessment of the first 3 annual reports and a stakeholder workshop, held in July 2022 in partnership with ABI, to provide expert opinion on whether the code remained fit for purpose in the current context, and which aspects may require updating. Attendees at the workshop included policy makers from across the 4 nations, NHS England, healthcare professionals, charities, patient organisations and the insurance industry. In addition to the workshop, ABI sought feedback through regularly hosting discussions with their Genetics Working Group - made up of experts from across the insurance industry. 

Workshop participants shared their experiences and opinions on issues relating to the code and discussed questions including:

• was the code easy to understand?
• was the code operating well?
• were the definitions of genetic testing used in the code still relevant?
• how could stakeholder engagement for future reviews be improved?

Following engagement, 3 key issues emerged:

1. The need for improved accessibility of the code, as there was some confusion among consumers and healthcare professionals as to how it applied in real-life situations (for example, knowing which information needed to be disclosed to insurers when applying for insurance).
2. Concerns that advances in genetic testing could lead to the distinction between what would be considered a ‘diagnostic’ and ‘predictive’ genetic test becoming blurred.
3. The need to provide transparency for how predictive genetic tests would be assessed for inclusion in, or exclusion from, a list of exceptions within the code, should an application be made in the future.

To improve accessibility of the code, ABI published an updated consumer guide (pdf, 2.3mb) to the code in July 2023, with support from Genetic Alliance UK, the Huntington’s Disease Association and ABI’s Genetics Working Group. The guide aims to provide further clarity on how the code works for consumers, as well as providing healthcare professionals with more information about how they should use the code when interacting with patients. The guide also aimed to empower people to respond to the call for evidence on the Code on Genetic Testing and Insurance.

With advances in genomic testing and the emergence of new types of tests, it’s essential that the definitions in the code remain relevant and fit for purpose - a concern that has been highlighted in a recent article by researchers at the University of Oxford.^{[footnote 2]} It’s also vital that the distinction between what is a diagnostic genetic test and predictive genetic test is clear for consumers, medical practitioners and insurers, to avoid confusion over the disclosure of predictive test results when making an insurance application.

With the increased incorporation of genomic testing into routine healthcare, the potential impacts of genetic tests on the insurance sector may change. There is therefore a need to develop a transparent approach for how predictive genetic tests should be required to be disclosed under the code, should an application be made in the future.

ABI commissioned the Cambridge Centre for Health Services Research to undertake research to identify the current and potential future impact of developments in genetics on the UK insurance industry.^{[footnote 3]} Central to this research was the development of a framework that provides a structured approach to monitoring and assessing developments in genetic testing.

In the framework, consideration of key factors when determining if a predictive genetic test result should be required to be disclosed under the code is guided by 4 key questions:

1. How useful is the genetic test for characterising the risk of developing a condition?
2. How many people take the test?
3. What is the impact of the condition in terms of the length and quality of life of people who develop it?
4. What is the potential for reducing the risk of developing the condition and managing its effects if it develops?

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. This application would need to be followed by a stakeholder engagement process and independent peer review of the application by a panel of experts before a decision is made.

The framework could be used by ABI to systematically collect and present information when requesting amendments to the list of predictive genetic tests that must be disclosed under the code. This may provide the basis for transparently assessing predictive genetic tests for inclusion in, or exclusion from, a list of exceptions within the code, if required in the future. It’s important to note that the framework is not intended to supersede the code, but rather to complement the current process for deciding whether a predictive genetic test result needs to be disclosed under the code.

The issues raised in the stakeholder workshop may require the code to be amended but, before considering this, we wanted to explore these issues further. Consequently, the call for evidence was launched in 2023, seeking views from individuals and organisations, including those with genetic conditions, family members and carers, healthcare professionals, the insurance industry and the public.

The call for evidence was divided into 3 themes and asked the following questions:

• whether the definitions ‘diagnostic’ and ‘predictive’ genetic tests were understandable, and whether there were any genetic tests in existence where it was unclear whether they would be classified as predictive or diagnostic
• whether the proposed framework was suitable for assessing whether a predictive genetic test should be required to be disclosed under the code
• whether the framework improved the decision-making process

As the call for evidence has now closed, the results will be analysed and a government response published. Additional stakeholder workshops will be held to follow up on key themes from the call for evidence, with feedback ultimately used to determine whether the code requires amending in order to remain up to date.

ABI annual report

In tandem with the government’s report, ABI has also published its annual report (pdf, 1.45mb), which includes information on compliance as well as additional relevant information on the insurance market.

The report notes that, in 2022, 94% of life insurance policies fell below the financial limit of £500,000 and that there was only one complaint reported about the use of a genetic test result by an insurance company. The complaint has been resolved.

See the ABI Code on Genetic Testing and Insurance page for all ABI annual reports and other resources.

Conclusion

Continuing developments in genomic medicine, treatment and research will help to improve the ability to diagnose and treat patients with genetic diseases. However, many of the developments listed in this report are happening within the context of research, and, as such, will not have an impact on the code.

Issues raised by the 2022 review have been explored through a call for evidence. Looking forwards, we will use the results of the call for evidence and additional stakeholder workshops to determine if the code requires amendment. It’s important to note, however, that this will not affect the protections in the code afforded to predictive genetic test results obtained exclusively in the context of scientific research, which do not need to be disclosed to insurers under any circumstances.

We will continue to publish annual reports, and will review the code again in 2025 as part of our commitment to ensure it remains relevant and fit for purpose, in light of continuing advances in the field of genomics that are shaping the future of healthcare across the UK.

1. Sun BB, Chiou J, Traylor M and others. ‘Plasma proteomic associations with genetics and health in the UK Biobank.’ Nature 2023: volume 622, pages 329 to 338. ↩

2. Dixon P, Horton R, Newman WG, McDermott JH and Lucassen A. ‘Genomics and insurance in the United Kingdom: increasing complexity and emerging challenges’ (20 April 2023). ↩

3. Rodriguez-Rincon D, Parkinson S, Hocking L, Evans H, Hudson E and Morley KI. ‘Assessing the impact of developments in genetic testing on insurers’ risk exposure.’ RAND Corporation (2022), document number: RR-A1209-1. ↩