Should we sequence everyone’s genome? No

• Published in: BMJ (Online) 2013-05, Vol.346 (may21 1), p.f3132-f3132
• Main Author: Flinter, Frances
• Format: Article
• Language: English
• Subjects: Cardiovascular disease; Deoxyribonucleic acid; DNA; Genome, Human - genetics; Genomes; Health care; Humans; Medicine; Mental disorders; Mental health; Mutation; Nucleotide sequence; Rare diseases
• ISSN: 0959-8138; 1756-1833; 1756-1833
• DOI: 10.1136/bmj.f3132

The enormous advances in our understanding of inherited diseases that have flowed from sequencing the human genome mean that many patients benefit from faster, more accurate diagnoses, targeted screening, cascade testing for relatives, and the availability of prenatal diagnosis and pre-implantation genetic diagnosis. The price will fall further; however, the cost and challenges of analysing, interpreting, and storing the data are substantial. 1 2 Mutation screening within a single gene is rapidly being replaced by targeted screening of a relevant panel of genes known to be implicated in particular phenotypes, and whole exome or whole genome sequencing is likely to become the preferred approach in these situations over the next few years. 3 Sequencing data can be filtered so that only variants in relevant genes are analysed; variants that might cause disease can then be validated by functional studies before their pathogenicity is confirmed. Plans to do this on a research basis, concentrating on the genomes of people with cancer and rare diseases, are sensible, as detailed knowledge of individual phenotypes will support data interpretation, increasing the library of reference information available. 4 The PHG Foundation, an independent think tank on the application of biomedical science, welcomed this initiative but identified areas that require clarification before work commences.