Acronyms & Glossary

CRISPR-Cas9: A biotechnology enabling precise and cheap gene editing. The technique’s developers, Jennifer Doudna and Emmanuelle Charpentier, won the Nobel Prize in Chemistry for this achievement in 2020.

Genetic counseling: The investigation of individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological, and familial implications, such as in making reproductive choices.

Genetic enhancement: Genetic modification in order to improve an organism beyond therapeutic goals (though the distinction between therapy and enhancement is not always clear cut). The bioethicist Julian Savulescu is perhaps the most prominent advocate of genetic enhancement in humans. Major opponents of human genetic enhancement include Francis Fukuyama, Michael Sandel, and Jürgen Habermas.

Germline gene therapy (GGT): The modification of genetic material for therapeutic purposes that can be passed on to descendants. This involves therapies targeting either gametes (sperm, eggs) or an early-stage embryo.

Genome-wide association studies (GWAS): A GWAS is a study surveying the genomes of many people and looking for genetic variants that occur more frequently in those with a specific disease or other trait.

In vitro fertilization (IVF): IVF is a complex series of procedures that can enable pregnancy. It is often used to treat infertility and/or to prevent passing on genetic problems to a child. Human eggs are collected from ovaries, fertilized by sperm in a lab, and a resulting embryo is implanted in a woman’s uterus.

In vitro gametogenesis (IVG): IVG is the creation of egg or sperm in the lab using an organism’s non-reproductive cells.

Polygenic risk score (PRS): A PRS uses genomic information to assess a person’s chances of having or developing a particular medical condition. Robust genome-wide association studies (GWAS) enable more meaningful PRS scoring.

Preimplantation genetic diagnosis (PGD): PGD involves genetically testing early embryos after in vitro fertilization (IVF) to assess the risk of developing one or more diseases. This can inform embryo selection for implantation.