Requirements for patients and their families | |
1 | People living with rare conditions and their families need high-quality information about how to access genomic testing, what happens at a genomic testing appointment and how long it takes to get results from genomic testing. Depending on what the test is for, there may also be a need for pretest counselling and/or help to understand the limitations of genomic testing, including the chance that no significant finding may be found. It is important to acknowledge that not everyone will receive a diagnosis after undergoing genomic tests. Some people will receive a finding of a variant of uncertain significance (VUS) or be affected by a condition that is so rare that it does not yet have a name. A lack of a definitive diagnosis leaves people and their families with little or no information about how their condition is likely to progress and even whether or not the condition will be life-limiting. It is important to provide support to individuals without a diagnosis or with a VUS result and the opportunity for reanalysis in the future. |
2 | Once samples have been submitted for testing, patients and their families need to receive their results within the timescale indicated by the clinical team arranging the test. Prompt communication is required regarding any issues that will delay results, for example unsuitable or insufficient samples. |
3 | A copy of the diagnostic report should be provided on request. This laboratory report should follow an agreed standardised format with an agreed minimal data set. A summary of the findings written in appropriate, accessible language should be included. |
4 | Patients and their families need to know who will explain what their test results mean and what will happen next and within an appropriate timeframe. This may include referrals to appropriate medical specialties, the provision of high-quality information to help them understand what the diagnosis means, and additional support to come to terms with the diagnosis and understand how it will impact on their day-to-day lives and their future. When test results indicate a condition has been inherited from a parent, people need access to support and accurate information about how it may impact any future pregnancies and other family members. Depending on their response to this information, they may wish to be referred for reproductive choice options, including preimplantation genetic testing and/or prenatal testing. It is important to clearly signpost people living with rare conditions and their families to the part of the NHS from which they will receive ongoing support for their condition. It is also important to signpost them to condition-specific charities and support groups that can provide information and peer-to-peer support for their journey. |
The patient-facing elements of these requirements are delivered by clinical genetics services, paediatrics and many other medical specialties. These services are outwith the scope of this position statement, which is focused on laboratory genomic testing.
NHS, National Health Service.