Genomic Testing & Interpretation Flashcards

What is the main purpose of genomic testing?

Answer: To identify disease-related genetic variants

Genomic testing identifies genetic variants that may contribute to disease or inherited traits.

Which type of test examines many genes at once?

Answer: Panel testing

Panel testing evaluates multiple genes associated with a condition or symptoms.

What does a variant of uncertain significance (VUS) indicate?

Answer: Its significance is not currently known

A VUS means the genetic change has unknown impact on health or disease risk.

Which result indicates a disease-causing mutation?

Answer: Pathogenic

In genetics, a 'pathogenic' variant or mutation is one that is known to cause disease. This classification indicates a clear link between the genetic change and a specific health condition. Other options like benign or likely benign suggest no disease causation, while VUS (Variant of Uncertain Significance) means its impact is not yet known.

Which technology is commonly used in genomic sequencing?

Answer: Next-generation sequencing

Next-generation sequencing (NGS), also known as high-throughput sequencing, is a revolutionary technology that allows for rapid and cost-effective sequencing of entire genomes or specific regions. It has become the standard method for genomic sequencing due to its ability to generate vast amounts of DNA sequence data simultaneously. Ultrasound and MRI are imaging techniques, and a blood pressure monitor is a diagnostic tool, none of which are used for genomic sequencing.

Why is family history still relevant with genomic testing?

Answer: It helps personalize interpretation

Family history is crucial even with genomic testing because it provides essential context for interpreting genetic results. It helps identify patterns of inheritance, highlight specific genes or conditions to investigate, and assess the clinical significance of variants found. This personalization ensures that genetic findings are understood within the individual's broader health and familial background, guiding appropriate management and counseling.

Which role does a genetic counselor play in test interpretation?

Answer: Interpret results for patients

Genetic counselors are healthcare professionals with specialized education and training in medical genetics and counseling. Their primary role is to interpret complex genetic test results for patients, explaining what the results mean for their health and their family. They also provide risk assessment, education, and support, helping patients make informed decisions about genetic testing and its implications.

What is a limitation of direct-to-consumer genetic tests?

Answer: They may lack clinical accuracy

A significant limitation of direct-to-consumer (DTC) genetic tests is that they may lack the rigorous clinical accuracy and validation of tests ordered through a healthcare provider. These tests might not cover all relevant genes, may report variants of uncertain significance without proper clinical context, or provide results that are not actionable or fully understood without professional interpretation. This can lead to misinterpretation, unnecessary anxiety, or false reassurance for consumers.

What does exome sequencing analyze?

Answer: The coding regions of the genome

Exome sequencing specifically analyzes the exome, which comprises all the protein-coding regions of the genome (exons). While the exome makes up only about 1-2% of the entire genome, it contains the vast majority of known disease-causing mutations. This targeted approach is efficient for identifying genetic causes of many Mendelian disorders.