Definitions:
Genome:
The complete set of genes in an organism, for example, human.
Genetic disease:
A genetic disease is a disease caused by one or more changes in the genome. Genetic disorders may be hereditary (passed down from the parents' genes) or caused by harmful changes or mutations to the DNA.
Recessive disease:
A genetic disease caused by inheriting one harmful change from each parent to both copies of a gene.
Severe recessive disease:
Defined in this study as a recessive disease that reduces the lifespan of a person to four years or less.
A Carrier:
Everybody has two copies of every gene. A carrier is a healthy person with a harmful change in one of those copies.
Preconception carrier screening:
A genetic test for potential parents before pregnancy to see if they are carriers of a recessive disease.
Genetic counsellor:
A trained professional who advises prospective parents about the risks of genetic disorders in a future child.