Factor | Recommendation |
---|---|
Team | Ensure patient detection and data quality through use of multidisciplinary investigator teams |
Cohort size | Bear in mind that larger cohorts, possibly recruited via expert consortia/registries in at-risk cohorts, help capture the full phenotype range and prevalence data |
Inclusion | Consider the impact of inclusion criteria that are neither too restrictive nor too broad |
Methods | Employ methods based on associated advantages/limitations, minimally invasive sampling, formal requirements, and possible confounding factors |
Genetics | Consider that large NGS gene panels/WES allow screening for multiple diseases in whole cohorts, and factor in the sensitivity and specificity of genetic profiling methods |
Biomarkers | Choose biomarkers bearing in mind their sensitivity, specificity, validation, sample stability and ease of transport, and assay turnaround times |
Clinical assessment | Use available simple clinical tools that allow quick analyses of relevant symptom clusters |
Laboratories | Select reference laboratories with well-established infrastructure for selected, validated diagnostic method(s) |
Consent | Take patient consent limits into account, particularly for retrospective chart reviews/biobanks |
Sustainability | Preserve awareness and knowledge from screening studies in local diagnostic procedures and/or follow-up processes |
Increased awareness | Raise awareness of rare disorders as a group represent a significant healthcare problem: this can aid referral to appropriate specialist clinics in time |