What is the rare disease pathway?

This week will follow the genomic pathway for the investigation of rare disease and the feedback of results: ‘from bedside to bench to bedside’. We will learn what to do at each stage of the pathway and how each touchpoint contributes to the delivery of effective genomic care.

Figure 1 provides an overview of the pathway, including the key touchpoints you will encounter during the genomic testing process.

_{Figure 1: The genomic testing pathway for rare disease
© Health Education England}
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1. Identify individual or family who would benefit from genomic testing. Please consider the flags for a possible genetic diagnosis that you were introduced to in Week 1.
2. Identify the appropriate test using the National Genomic Test Directory.
3. Begin the testing process with the individual or family, including making the genomic testing offer and working through the consent process. Different record of discussion forms are currently available for whole genome sequencing (WGS) and non-WGS testing.
4. Take appropriate sample(s), using the correct tube or tubes. Most commonly, a single blood sample in an EDTA tube will be required, but there are exceptions depending on the test.
5. Send the sample(s) to the laboratory with the correct paperwork, fully completed with all required details. Paperwork should include a referral form (for non-WGS tests) or a test order form (TOF) (for WGS tests). Referral forms are available through your local Genomic Medicine Service Alliance, and the WGS TOF is available on this NHS England webpage. Remember to keep copies of all relevant forms in the case notes.
6. Receive results and take further action as required. Some results may be clinically actionable; others may require a multidisciplinary team meeting or further investigations.
7. Consider wider effects of testing on the family, including cascade screening and reproductive implications.

We’re now going to work through each one of these touchpoints, starting with identifying those who could benefit from genomic testing.