Document resource
Technologies underlying nucleic acid therapies (NATs) have significantly advanced leading to successful approvals of NAT drugs across various diseases. Notably, successes in antisense oligonucleotide (ASO) therapies have dominated approvals in rare diseases. Many patients with a rare genetic disease stand to benefit from these treatments and, as underlying technologies continue to advance, a critical barrier to care is the equitable selection of patients. Landmark progress in genomic health care uniquely positions the UK to develop a national NATs patient-selection infrastructure and UPNAT has been launched, in part, to meet this goal by developing guidelines to assess potential patients for NAT development and treatment, using ASO therapies as a pilot. We present the first UK focused guidelines, developed by a panel of UK-based multi-disciplinary experts, that allow systematic assessment of criteria across disease, gene, variant and individual patient subgroups, incorporating the recently published N1C variant guidelines. Guidelines enable rapid prioritisation of promising targets and identification of barriers stalling ASO development and will be adaptable to fast-paced technological advances in this field. Application of guidelines is underway in real-world settings through the assessment of genomic and clinical data within both highly specialised NHS clinics and the Genomics England National Genomic Research Library.