Personal Genomic Information and Testing

Vocabulary flashcards covering the basics of personal genomic information, sequencing technologies, specific disease diagnostics, and testing methods from the lecture notes.

Personal Genomic Information

Any information generated by sequencing and analysing a person’s genome, used for the detection of disease, prediction of disease outcome, and determining response to drug or treatment.

Sanger sequencing

The first sequencing method developed; it is noted for being time-consuming compared to modern methods.

Next-generation sequencing

A sequencing method where many fragments of DNA are read at the same time to increase speed, reduce costs, and reduce processing time.

Whole genome sequencing (WGS)

A main application of next-generation sequencing that involves sequencing the entire genome.

Whole exome sequencing (WES)

Sequencing of the exons, which are the parts of the genome that code for proteins, representing approximately $2\%$ of the whole genome.

Targeted sequencing (TS)

Sequencing of a specific panel of genes chosen because they are known to have alterations or mutations with roles in a specific disease.

Single Nucleotide Polymorphisms (SNPs)

A substitution of a single base or nucleotide with another base; these occur throughout the genome on average every $300$ bases.

SNP profiling

The process of determining the role of SNPs in disease pathology to accurately determine the risk of developing disease and response to treatment.

Multifactorial inheritance

A condition where health diseases are caused by a combination of multiple genetic factors and environmental factors.

Direct to consumer testing

Commercial genome sequencing kits (e.g., 23andMe) that use SNP arrays to provide ancestry or disease risk information directly to the public.

Huntington’s Disease

A monogenic inherited disease causing progressive neurodegeneration of brain neurons, caused by having exceeding $39$ CAG repeats in the huntington gene.

Diagnostic testing

Genetic testing performed in an individual to confirm or rule out a specific disease.

Presymptomatic testing

Testing used to determine the carrier status of an individual to assess the risk of inheriting a disease.

Prenatal testing

Genetic testing performed to determine the carrier status of a foetus.

Array Comparative Genome Hybridisation (Array CGH)

A technique where a patient genome is compared to a reference genome using fluorescence ratios to detect duplications or deletions of parts of the genome.

BRCA1 and BRCA2

Genetic variants associated with breast and ovarian cancer that can be identified via predictive genetic testing involving PCR amplification and DNA sequencing.

Glaucoma

A highly heritable progressive neurodegeneration of the optic nerve; while mainly polygenic, $5\%$ of cases are caused by rare monogenic genes like MYOC, TBK1, and OPTN.

Polygenic risk score

A score calculated using identified common SNPs to indicate an individual's overall genetic risk for a disease.

Point-of-Care Testing

Portable technology used at the site of the patient or clinical setting to provide real-time sequencing for identifying cases and tracking the spread of disease.