Recommendations for investigation of the family: cause identified—cascade testing, clinical and genetic investigations

COR	LOE	Recommendations	References
1	C-LD	1. If a pathogenic or likely pathogenic variant that fits with the phenotype has been identified in an SCD proband, first-degree relatives should be offered DNA testing, with ongoing clinical evaluation for those testing positive.	70,84,346,355,356
1	C-LD	2. SCA survivors should be encouraged to provide information to at-risk relatives, and health care providers should support and document this process.	350,357
1	C-LD	3. The effectiveness of treatment strategies and interventions in relatives with pathogenic or likely pathogenic variants of genes related to SCD should be investigated in clinical trials.	333,358
1	B-NR	4. In families affected by SCA, reproductive genetic counseling should be offered to discuss risks and options for future or current pregnancies.	336–338