Whole Genome Sequencing and Evolutionary Biology

Vocabulary flashcards covering key terms related to whole genome sequencing, personalised medicine, pharmacogenomics, evolutionary concepts, and molecular evidence of evolution.

Whole Genome Sequencing (WGS)

The laboratory process of determining the exact order of DNA bases across an organism's entire genome.

Genome

The complete set of genetic material or DNA present in an organism.

Single-nucleotide polymorphism (SNP)

A variation in a single DNA base pair occurring at a specific position in the genome.

Personalised medicine

A medical model using an individual's genetic profile to predict disease risks, select tailored treatments, and avoid adverse drug responses.

Haemophilus influenzae

The first bacterial species to have its whole genome sequenced, completed by the Institute for Genomic Research in 1995.

HER-2 gene

A gene whose mutation and amplification leads to protein overexpression, causing uncontrolled cell division and tumour growth in breast cancer cells.

Herceptin

A targeted drug developed to specifically bind to the HER-2 protein receptor, inhibiting its signal and causing the destruction of HER2-positive breast cancer cells.

Pharmacogenomics

The study of how an individual's genetic makeup determines their body's response to and metabolization of drugs.

Human chromosome number 2

A human chromosome created by the fusion of two ancestral primate chromosomes, offering strong evidence of shared evolutionary ancestry.

Treasury Laws Amendment (Genetic Testing Protections in Life Insurance and Other Measures) Act 2025

Legislation taking effect on October 8, 2026, making it illegal for insurance companies to use genetic test results to adversely affect life, income protection, or trauma insurance applications.

Genetic counsellors

Healthcare professionals who help patients understand genome sequencing results, support decision-making, and explain genetic health risks clearly without technical jargon.

Evolution

A change in the heritable characteristics and allele frequencies of a population over successive generations.

Acquired traits

Characteristics developed during an organism's lifetime due to environmental influences, experiences, or use/disuse, which are not passed on genetically to offspring.

Heritable traits

Genetically influenced characteristics encoded by DNA/alleles that can be passed down from parents to offspring.

Lamarckism

An early evolutionary hypothesis suggesting that organisms pass on non-genetic physical traits acquired during their lifetime through use or disuse to their offspring.

Natural selection

The primary mechanism of evolution where organisms with inherited traits best suited to their current environment survive and reproduce at higher rates.

Paradigm shift

A fundamental shift in scientific understanding, such as the transition from Lamarckian acquired inheritance to Darwinian natural selection.

Somatic cells

Non-reproductive body cells whose genetic changes or acquired physical alterations are not passed on to offspring.

Germline cells

Reproductive germ cells (eggs and sperm) that carry heritable genetic material to the next generation.

Selection pressure

An environmental factor or condition (such as predation or resource limitation) that influences survival and reproductive success among organisms with varied traits.

Differential reproduction

The variation in survival and reproductive success among individuals in a population due to differences in their inherited characteristics.

Pax6 gene

An ancient master control gene responsible for directing eye development that is conserved across diverse animal lineages.