Summer Consultation 2021

What was discussed?

On 7 July our Sounding Board met virtually via Zoom and were consulted on the following topics:

  • Pharmocogenomics
  • Direct to Consumer Genetic Testing

Consultation 1: Pharmacogenomics

Following an introductory presentation about this area of genomics concerned with the way in which an individual’s genetic attributes affect their likely response to therapeutic drugs, each group was given a scenario and asked a series of questions: 

  • Should the patient be tested for the variant in question? If so, when should testing be performed? 
  • Should they be tested for individual gene mutations, or should a large panel testing be used to screen them for common pharmacogenomic variants? 
  • How should the patient’s pharmacogenomic test results be stored and managed? 

The following overarching themes arose from the discussions: 

  • Clear communication and informed decision-making  
    • A need for clarity in presenting the information to patients in an easily understandable, jargon-free manner tailored to the individual patient’s requirements  
    • What is the link between the treatment drug in question and adverse drug reactions; how severe/how common are these reactions reported? Important to weigh up reaction to drugs against their benefits in treating a given condition within a particular timeframes – would withholding the drug lead to worse outcomes?  
    • Important to take into account any previous history of negative reactions to similar drugs that have occurred within the close family. This should include anecdotal knowledge which may not be recorded on a patient’s record – e.g. “my mum was prescribed x and it made her really ill, I’m nervous about taking it as a result…” 
    • Importance of understanding the implications of a genetic variant being found/not found on your treatment options 
    • Are there any alternative treatments available or is the drug in question the only viable treatment option currently? 
  • Importance of Gene Panel Testing / Screening Programmes  
    • How common are the adverse drug reactions? Is screening through gene panels a cost-effective way of identifying these pre-prescribing?  
    • You felt that a screening programme before individuals become unwell would ensure the relevant information is to hand when required. The programme would be an opt-in system, and consequently would rely on informed consent  
    • Screening programmes should be GP-led to identify patients at potentially higher risk of the variant 
  • Single gene versus large panel testing  
    • Routine use of large panel test would be ideal, however in an emergency, a single-gene, rapid test may be necessary where a specific result is required quickly 
    • It may be cost effective to screen for a number of variants using large panel tests, however this would increase the risk of causing unnecessary concern in a patient when other variants are identified 
  • Electronic Health Records and data sharing  
    • Does family history suggest there has been any previous incidents of negative reactions to similar drugs? This may indicate predispositions that the treating physician, pharmacist and patient should be aware. Results to pharmacogenetics tests should be included on a patient’s records to support future clinical decision making 
    • Development of a single patient electronic health record should be prioritised to ensure consistent levels of care are achieved across a variety of specialties. This record should include data sharing and linkages with NHS services outside of Wales where appropriate, as well as between different specialties be presented for further review/comment. 

Consultation 2: Direct to Consumer Genetic Testing

You were introduced to the increasing prevalence of direct to consumer (DTC – private) genetic testing. Each group considered a scenario of an individual accessing DTC genetic testing and, upon receiving their result, whether they should be offered an NHS clinical genetics appointment/assessment). And if not, where should they go for advice. These discussions generated a number of views and some key themes including:  

  • If this is an approved test from within an NHS ecosystem/from an accredited laboratory then they should be seen by the NHS service when they receive their result 
  • However, as a number of DTC tests lack accreditation, some felt that they should not have access to NHS clinical genetics services as it bypasses normal routes for genetic testing within the NHS; others felt that the NHS has a duty of care to anyone, regardless of the origin of the genetic test, and the patient’s concerns should be considered – it would be unethical to ignore patient concerns following DTC testing 
  • Family history should be taken into consideration as a valid reason for further genetic testing, but not invasive procedures where there is no other clinical presentation; enrolment in screening programmes may be more appropriate in these instances  
  • It is vital for GPs to have the necessary skills and knowledge to triage and know where to refer appropriate patients for further information and care/testing 
  • The NHS is seen as a more trustworthy source of information than DTC companies, it is only natural for patients to turn to the NHS in this situation 
  • Management of expectations: receiving a referral to genetics does not always equal a genetic test, rather it could lead to a referral for screening instead – this should be made clear to the patient from the outset 
  • Fairness: we need to avoid a tiered system based on those who can or cannot afford these private tests. No one should be disadvantaged at point of care. You felt strongly that these individuals should not be allowed to ‘jump the queue’, but take their natural place in the waiting list 

You felt a decision tree might need to be developed to help manage referrals appropriately. This could help to separate referrals into the following sections: 

  1. Those with pre-existing medical conditions confirmed by private test ordered by a treating (NHS) clinician 
  1. Those eligible, through their pre-existing conditions, to be enrolled in clinical trials which aim to improve the outcome of their treatment 
  1. Asymptomatic patients, with or without a family history, who are concerned about the risk of developing conditions following a DTC test 

Review of Genomics for Precision Medicine Strategy

An update was provided regarding the ongoing review of our progress in delivering the Strategy and our future ambition for genomics in Wales. We are committed to being bold with our future PPI work, and involve the Sounding Board in developing this information for submission to Welsh Government. 

Format of meeting outputs

An update was provided regarding the ongoing review of our progress in delivering the Strategy and our future ambition for genomics in Wales. We are committed to being bold with our future PPI work, and involve the Sounding Board in developing this information for submission to Welsh Government.