Genetic Diagnosis

Overview

Genetic diagnosis is the process of identifying changes in an individual's genome, or genetic material, that may be associated with a health-related condition. It involves testing a person's DNA to detect genetic changes (mutations) that can be linked to the health-related condition. Genetic diagnosis can be used to diagnose and inform treatment plans for both inherited and acquired conditions, helping to improve health outcomes and reduce the burden of disease. It can also be used for pre-symptomatic or predictive testing to identify individuals who may carry a genetic mutation and be at an increased risk of developing a condition. In addition, genetic testing can be used for carrier screening to identify individuals who are carriers of a genetic condition, and identify couples who may be at risk of having a child with a heritable medical condition. In summary, genetic diagnosis provides an important tool for improved diagnoses and treatments of genetic disorders, and has the potential to lead to earlier and more effective interventions for improved health outcomes.

Research published in this journal

7 peer-reviewed articles, ranked by relevance. Each links to its DOI.

How this research is being cited

The 7 articles above have been cited 1 time in the scholarly literature. Citation data via OpenAlex and Crossref, updated Oct 2025.

• Evaluating the Efficacy of Miglustat and Ambroxol Combination Therapy in a Phase 1b/2 Virtual Drug Trial for Type 1 Tay-Sachs Disease Using aiHumanoid Simulations
  2024 · medRxiv (Cold Spring Harbor Laboratory)

A sample of recent works citing this journal's research on Genetic Diagnosis, linking to each citing work.

This page summarises published research for orientation; it is not medical or professional advice.

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