Genetic screening: the voices that need to be heard

24th February
By Anna Middleton

The AGNC has first-hand experience dealing with the anxieties and complications sharing genetic findings can potentially cause patients. Credit: Wellcome Library, London.

The AGNC has first-hand experience dealing with the anxieties and complications sharing genetic findings can potentially cause patients. Credit: Wellcome Library, London.

In the near future, with the impetus from Genomics England, whole-genome sequencing will become part of clinical practice in the NHS. This means that clinicians will be able to offer sequencing to 100,000 people from three groups of patients: including those with cancer, rare diseases and infectious diseases.

A big question at the moment is whether to use targeted sequencing on its own to answer a specific clinical question; or whether to do this and in addition take the serendipitous opportunity to screen for a pre-determined set of variants that could be indicative of unrelated conditions. Such ‘opportunistic genomic screening’ would be a shift in thinking and requires careful consideration on the part of policy makers.

The voices of genetic counsellors need to be heard so that the potential psychological effect of opportunistic genomic screening on patients is fully understood. That¹s why the professional organisation that I belong to: the Association of Genetic Nurses and Counsellors (AGNC), has produced a position statement on opportunistic genomic screening.

While we are a comparatively small group – there are only 300 genetic counsellors in the UK – we’re the first professional UK body working in genetics to take a stance on policy issues about how we use this genomic data. We’re ideally placed to do so because we have first-hand experience of dealing with patients and we understand the anxieties and complications that sharing genetic findings can potentially cause.

Part of the impetus for putting together our position statement has been the publication of recommendations from the American College of Medical Genetics and Genomics (ACMG). We believe that their recommendations that clinical sequencing should deliberately search for a pre-determined list of conditions and that opportunistic screening should be undertaken without first knowing the patient’s preferences, represents a significant departure from current healthcare practice.

Traditionally, healthcare is led by the patient: the patient approaches a clinician with a specific medical question and the clinician attempts to answer without searching for other medical conditions unrelated to the original question. We see no reason why sequencing in the clinic should take a drastically different approach.

However, we do feel very strongly that if incidental findings (truly discovered by accident as opposed to deliberately searched for) reveal serious, life threatening illnesses that are preventable or treatable, patients should be given the option to know. This is reflected in the results of the survey I have been conducting into public attitudes to sharing genomic data.

Another important point at which our position statement differs from the recommendations of the ACMG is on the issue of testing children for adult-onset conditions. While the ACMG has called for children to be routinely screened for adult-onset conditions, we see no reason why clinicians should not wait until a person is 18. At this point they can decide whether or not they want to be tested. If you test a two-year old child, you’re giving the results to parents not to the child.

Research shows that many parents without the proper support, understandably, find it difficult to share these results with their children. In these cases, if the parent is unable to relay the findings, these children may, for example, grow up into adults with, say, an increased risk of breast cancer or ovarian cancer that they don’t know themselves.

As well as placing a heavy emphasis on autonomy, our position statement also calls for robust evidence. We need to research the potential psychological harms of over-diagnosis and the psychosocial impact of integrating opportunistic genomic screening into clinical practice.

Anna Middleton is a social scientist and registered genetic counsellor researching ethics and genomics at the Wellcome Trust Sanger Institute.

References