{"id":48837,"date":"2020-10-16T13:23:09","date_gmt":"2020-10-16T12:23:09","guid":{"rendered":"https:\/\/blogs.bmj.com\/bmj\/?p=48837"},"modified":"2020-10-18T08:22:22","modified_gmt":"2020-10-18T07:22:22","slug":"as-genomic-testing-increases-it-is-time-to-focus-on-post-test-care-for-patients","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/bmj\/2020\/10\/16\/as-genomic-testing-increases-it-is-time-to-focus-on-post-test-care-for-patients\/","title":{"rendered":"As genomic testing increases, it is time to focus on post test care for patients"},"content":{"rendered":"

It is time for genetics services to rethink where they are focusing their resources, argue two genetic counsellors with experience of working in NHS specialist genetic services, research, and policy\u00a0<\/span><\/i><\/p>\n

Genomic testing is increasingly a part of mainstream healthcare and is positioned high on the political agenda (<\/span>Chief Medical Officers Report 2017<\/span><\/a>,\u00a0<\/span>EU Commission<\/span>). A recent UK government report <\/span>(Genome UK)<\/span><\/a> and previous <\/span>announcements<\/span><\/a> by Matt Hancock, the Secretary of State for Health and Social Care, have raised the profile of genomics as a technology offering significant benefits to patients in terms of predicting and diagnosing disease, as well as personalising treatments. Initiatives such as the 100,000 Genomes Project, changes in the delivery of laboratory genetic services in the NHS in England, and the launch of the new NHS Genomic Medicine Service, mean that genomic technology is here to stay.\u00a0<\/span><\/p>\n

Commentators have raised concerns about the benefits of such testing in healthy individuals, and the problems for clinical services left to pick up the pieces by consumers who have accessed genetic testing directly (<\/span>RCGP 2019<\/span><\/a>)<\/span>. These issues are entirely relevant, and authors rightly argue for caution in widespread implementation of genomic technologies where they may not be clinically relevant. Legal cases have also highlighted ethical tensions between who has a right to know or withhold genetic information (<\/span>Middleton A et al 2019<\/span><\/a>)<\/span>.\u00a0<\/span><\/p>\n

We want to change the focus and raise some issues around the care of patients with rare genetic diseases and their families.\u00a0<\/span><\/p>\n

Access to clinically relevant genomic testing for these families is easier than it has ever been before. It means there will be a reduction in the “diagnostic odyssey,” shortening the time between initial suspicion of a genetic disorder to confirmed diagnosis. New disease mechanisms and classifications will emerge. More patients will have an explanation as to the cause of their own condition and any familial implications. More parents will have an explanation of their child\u2019s condition and the possible chances of it happening again in future children.\u00a0<\/span><\/p>\n

Access to genomic testing is pivotal for families with rare diseases, but the focus of clinical care should move beyond just access to the test itself to include the post-test consequences. By this we mean offering support for patients coming to terms with diagnosis of a rare genetic disorder and managing the information the genetic result gives in relation to immediate care and potential choices, as well as the care of family members and future generations. The current pandemic has also had a significant impact on families living with rare disease. (<\/span>Genetic Alliance. Family story: thoughts on Covid-19<\/span><\/a>).\u00a0<\/span><\/p>\n

In the short to medium term the contribution genomics makes to medicine will mostly happen within the field of rare genetic diseases. As stated in many policy documents, rare diseases may be individually rare, but as a group they affect 1 in 17 of us, which means genomic testing is relevant to a significant proportion of patients using health services.\u00a0<\/span><\/p>\n

As diagnostic genomic testing increases, all these patients and their families will need healthcare directed at mediating the consequences of diagnoses that are made or recognised. In a global healthcare service with limited availability of genetic health professionals (<\/span>Abacan 2019<\/span><\/a>) it is time to push existing resources to where they are needed most.<\/span><\/p>\n

We already know from various reports that families with rare diseases face many difficulties in managing their complex care\u00a0 (<\/span>EURORDIS<\/span><\/a>,\u00a0<\/span>All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions<\/span><\/a>). We also know from anecdotal experience and research that the following are very relevant<\/span>\u2014<\/span>the lifelong nature of genetic disorders, the fact that they may affect many different body systems requiring holistic coordination of care, and the fact that they may have intergenerational consequences and risks. All present challenges for the way health systems are currently constructed and care is delivered.<\/span><\/p>\n

Traditionally, genetic services and genetic counselling have been focused on the “test.” This has been enshrined in various international guidelines and instruments, with some countries mandating genetic counselling before people are able to access a genetic test (<\/span>Kalokairinou et al 2017<\/span><\/a>). As the availability of genomic testing increases, it is time to question where genetic services could be focusing their resources.\u00a0<\/span><\/p>\n

Decisions around proceeding with a genomic test in pre-test counselling include many facets that are well-rehearsed in clinical practice. For example, who is chosen for testing, who has access to the test result, consent choices, and the challenges of interpreting and communicating the results. Once clinically relevant genetic analysis is a routine part of diagnostic pathways in mainstream medicine, the focus of “genetic counselling” needs to shift from the pre-test phase to post-test care. This requires genetic services and genetic health professionals to question custom and practice, to consider what is necessary and useful and what is no longer fit for purpose.<\/span><\/p>\n

This will require a shift in thinking within the clinical genetics community. We are letting patients and families down if we do not put as much emphasis on their care after genomics analysis as we currently put on it before. Constrained NHS resources means we must be flexible, consider how to do things differently and let go of past practices and service models to explore new ways of working.<\/span><\/p>\n

Christine Patch<\/strong> has 40 years\u2019 experience as a nurse and registered genetic counsellor. She is principal staff scientist for genomic counselling at the Society and Ethics Research Group, Wellcome Genome Campus, Connecting Science, Cambridge, and lead genetic counsellor for Genomics England.<\/span><\/i><\/p>\n

Anna Middleton<\/strong> has 26 years\u2019 experience as a registered genetic counsellor and social science researcher. She is head of society and ethics research at Wellcome Genome Campus, Connecting Science, Cambridge, and has personal experience as a patient in the 100,000 genomes project.<\/span><\/i><\/p>\n

Competing interests<\/strong>: None declared.<\/em><\/p>\n

This work was supported by Wellcome grant [206194] paid to Society and Ethics Research Group via Connecting Science, Wellcome Genome Campus. AM receives personal fees as a member of the Ethics Board for the patient company RareMark. CP is employed by Genomics England a company wholly owned by the Department of Health & Social Care.<\/span><\/p>\n

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It is time for genetics services to rethink where they are focusing their resources, argue two genetic counsellors with experience of working in NHS specialist genetic services, research, and policy\u00a0 […]<\/p>\n

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