MMDPDAMedical & Dental Professional Development Alliance
Clinical specialty hub

Clinical Genetics & Genomics

Referenced MDPDA clinical resources in Clinical Genetics & Genomics, with transparent evidence and review metadata.

20 clinical resources
Clinical practice guide

Variants of uncertain significance: interpretation and avoiding overdiagnosis

An evidence-informed international clinical reference on variants of uncertain significance, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Prenatal genetic screening: options, limitations and diagnostic confirmation

An evidence-informed international clinical reference on prenatal genetic screening, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Family history assessment for inherited disease: pedigree, red flags and referral

An evidence-informed international clinical reference on family history assessment for inherited disease, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Prenatal diagnostic testing: chorionic villus sampling and amniocentesis principles

An evidence-informed international clinical reference on prenatal diagnostic testing, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Hereditary breast and ovarian cancer: risk assessment and genetic testing

An evidence-informed international clinical reference on hereditary breast and ovarian cancer, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Newborn genomic testing: indications, consent and family implications

An evidence-informed international clinical reference on newborn genomic testing, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Lynch syndrome: tumour testing, germline diagnosis and cancer surveillance

An evidence-informed international clinical reference on lynch syndrome, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Consanguinity and reproductive genetics: risk communication and testing options

An evidence-informed international clinical reference on consanguinity and reproductive genetics, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Familial hypercholesterolaemia: cascade testing and cardiovascular prevention

An evidence-informed international clinical reference on familial hypercholesterolaemia, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Genetic discrimination, privacy and consent: jurisdiction-sensitive professional practice

An evidence-informed international clinical reference on genetic discrimination, privacy and consent, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Hypertrophic cardiomyopathy genetics: family screening and variant interpretation

An evidence-informed international clinical reference on hypertrophic cardiomyopathy genetics, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Inherited arrhythmia syndromes: long QT, Brugada and family assessment

An evidence-informed international clinical reference on inherited arrhythmia syndromes, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Hereditary haemochromatosis: genetic testing and iron overload assessment

An evidence-informed international clinical reference on hereditary haemochromatosis, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Alpha-1 antitrypsin deficiency: diagnosis, family testing and organ surveillance

An evidence-informed international clinical reference on alpha-1 antitrypsin deficiency, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Cystic fibrosis carrier and diagnostic testing: interpretation and counselling

An evidence-informed international clinical reference on cystic fibrosis carrier and diagnostic testing, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Fragile X syndrome: testing indications and family implications

An evidence-informed international clinical reference on fragile x syndrome, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Hereditary neuropathies: phenotype, testing and counselling

An evidence-informed international clinical reference on hereditary neuropathies, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18
Clinical practice guide

Inherited retinal disease: genomic testing and multidisciplinary care

An evidence-informed international clinical reference on inherited retinal disease, for healthcare professionals across the UK, US, Canada, Australia, New Zealand and Ireland. It covers recognition, assessment, management, escalation, follow-up and jurisdiction-sensitive practice considerations.

Clinical Genetics & GenomicsReviewed 2026-08-18