What criteria should I use to determine if a patient is suitable for Pre-implantation Genetic Diagnosis (PGD)?

Criteria for suitability for pre-implantation genetic diagnosis (PGD) include:

• Couples with a known specific genetic defect or mutation that poses a high risk of transmission to offspring should be considered for PGD to avoid passing on the genetic disorder.
• Appropriate genetic counselling must be provided before PGD to ensure informed decision-making, including discussion of the implications of genetic testing and the potential outcomes.
• Genetic testing should ideally start with mutation identification in an affected family member to confirm the specific genetic abnormality before PGD is offered.
• PGD is suitable when the risk of transmitting a serious genetic condition is significant enough to justify the intervention, such as in families with mutations in genes like BRCA1, BRCA2, or TP53, or other known pathogenic mutations.
• Patients should have access to specialist genetic clinics for assessment and counselling to determine the appropriateness of PGD based on their family history and genetic risk.

These criteria ensure that PGD is targeted to those at significant genetic risk and that patients are fully informed about the benefits, limitations, and implications of the procedure.

References: NICE CG164