Table 1.
Category | Definition | Characteristics | Recommendation |
---|---|---|---|
A | Serious monogenic Diseases Heritability: 100% |
◆ Autosomal dominant disease (one parent carries affected homozygote) ◆ Autosomal recessive disease (both parents carry affected homozygotes) ◆ X-linked recessive diseases (female parent carries affected homozygote, male parent carries affected hemizygote) |
All is suitable for HHGE |
B | Serious monogenic Diseases Heritability: 25–50% |
◆ Autosomal dominant disease (one parent carries affected heterozygote) ◆ Autosomal recessive disease (both parents carry affected heterozygotes) ◆ X-linked dominant disease (female parent carries affected heterozygote) ◆ X-linked recessive diseases (female parent carries affected heterozygote, male parent carries affected hemizygote) |
A small subset is suitable for HHGE |
C | Mild monogenic diseases | Mainly affecting quality of life; Could be mitigated by medical or lifestyle interventions e.g., familial hypercholesterolemia |
Unsuitable for HHGE, because the balance of risks and benefits is unknown |
D | Polygenic diseases | Disease were caused by a large number of genetic variants e.g., T2DM |
|
E | Other applications | Enhancing human ability, or obtaining new function | |
F | Monogenic conditions that cause infertility | Treating e infertility caused by monogenic variant in germline cell |
HHGE, Heritable Human Genome Editing.