1️⃣ Next-generation sequencing encompasses several approaches: whole genome sequencing, whole exome sequencing and targeted sequencing.3–5 Whole genome sequencing reports all nucleotide
bases in the entire genome, whole exome sequencing reports only the protein-coding regions (exons), and simpler targeted panels use next-generation sequencing chemistry to slice out information on predetermined disease-associated genes.
2️⃣ The hundreds of thousands of variations detected by whole genome sequencing in an individual’s DNA sample can have phenotypic consequences ranging from beneficial to neutral (predominantly) to potentially disease causing or disease associated.3–5 Adding knowledge of DNA variants to the family history could possibly affect diagnosis, prognostication or planning of therapeutic interventions, although
this remains to be determined for most clinical scenarios.
3️⃣ The linked study highlights the potential of widespread implementation of whole genome sequencing, including early diagnosis and perhaps an opportunity to prevent or delay disease-associated outcomes or complications, screening of family members and implications for family planning. Yet, possible drawbacks include misdiagnosis resulting from pathogenic misclassification, increased risk of incidental findings (too much information), diagnosing conditions for which nothing can be done, or increased use of resources triggered by a positive diagnosis.
[By Celebre Pro Medic Sdn Bhd 20220304]