You had your genome sequenced and found something – now what?

Subject : S&T

Section: Biotechnology

Context:

In recent decades, genomics and the use of genetic information in healthcare have undergone significant transformations.
Once limited to major research centers, personal genome sequencing has become widely accessible, empowering individuals with detailed knowledge of their genetic makeup.

Advantage of Advancements in Sequencing Technologies

Reduced Costs: The affordability of genome sequencing, particularly due to advancements in next-generation sequencing, has democratized access to genetic information.
Population-Wide Projects: This accessibility has spurred large-scale initiatives aiming to use genetic data for healthcare improvements, including population-scale whole genome sequencing.

Benefits of Personal Genome Sequencing

Tailored Treatments: Personal genome sequencing enables customized treatments based on individual genetic profiles and predicts susceptibility to specific diseases.
Incidental Findings: Comprehensive genetic tests often reveal additional genetic abnormalities beyond their initial purpose, known as incidental or secondary findings.

Various Guidelines and Recommendations on Incidental Findings

ACMG Recommendations: In 2013, the American College of Medical Genetics and Genomics recommended disclosing certain incidental findings from whole exome or genome sequencing that could benefit individuals.
Expanding List of Conditions: The ACMG has expanded its list of reportable conditions, with the latest version including 97 disorders and 81 genes related to cardiovascular, metabolic disorders, and cancer.

Prevalence and Impact of Incidental Findings

Population-Scale Studies: Studies in various populations, including the Indian population, have revealed the prevalence of underdiagnosed diseases like cardiac channelopathies and familial hypercholesterolemia.
Significance of Findings: While there is evidence supporting the medical benefits of disclosing incidental findings, their population-scale impact remains limitedly understood.

Iceland’s Genetics Research Approach

Iceland’s Unique Demographics: Iceland’s historical demographic isolation and early initiation of population-level genome sequencing have made it a focal point in genetics research.
Research on Lifespan and Genetic Variants: A study in Iceland suggested that actionable incidental genetic variants could potentially improve lifespan, with significant findings related to cancer-related genotypes.

Prospects of Genome Sequencing and Healthcare

Increasing Accessibility: As genome sequencing becomes more accessible and affordable, regular population-scale sequencing and newborn sequencing initiatives are becoming more feasible.
Benefits for Population Health: Widespread implementation of these programs could provide medically actionable insights, enabling proactive and effective disease treatment and prevention.