The North East and Yorkshire Genomics Medicine Service Alliance (NEY GMSA), in collaboration with Academic Health Science Network North East and North Cumbria (AHSN NENC), has produced a briefing paper discussing the digital solutions that could support the clinical pathway and service development in identifying individuals with familial hypercholesterolaemia (FH).
FH, an inherited condition that predisposes affected individuals to extremely high cholesterol levels and premature cardiovascular disease, is currently underdiagnosed. In 2019, The NHS Long Term Plan, supported by a national transformation project, set an aim to identify 25% of FH patients through genomic testing within five years.
This briefing paper details the categories of digital technologies available, or imminently available, and maps them to the episodes of clinical activity identified within the FH clinical pathway initiative (CPI) to enable the delivery of FH diagnostic testing to adults.
A key part of the development of the FH CPI, this paper was led by the NEY GMSA, with expert input from members of the NEY GMSA FH steering group, GMSA National Oversight group for FH, Primary Care Special Interest Group for Genomics, Academic Health Science Network North East and North Cumbria (AHSN NENC), Heart UK and the NHSE National Genomics Education programme.
