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Review: α1-Antitrypsin Deficiency and Chronic Respiratory Disorders

23 Feb, 2020 | 21:16h | UTC

α1-Antitrypsin deficiency and chronic respiratory disorders – European Respiratory Review (free)


BSH Guideline: Laboratory Diagnosis of G6PD Deficiency

30 Jan, 2020 | 07:36h | UTC

Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline – British Journal of Haematology (free)


Guidelines for the Management of Hereditary Colorectal Cancer

4 Dec, 2019 | 08:28h | UTC

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG) – Gut (free)

Related Guidelines: Clinical Practice Guideline on Screening for Colorectal Cancer in Individuals With a Family History of Nonhereditary Colorectal Cancer or Adenoma: The Canadian Association of Gastroenterology Banff Consensus – Gastroenterology (free) AND Endoscopic management of Lynch syndrome and of familial risk of colorectal cancer: European Society of Gastrointestinal Endoscopy (ESGE) Guideline – Endoscopy (free)


NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment of Colorectal Cancer

10 Sep, 2019 | 01:19h | UTC

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019 – Journal of the National Comprehensive Cancer Network (free)


USPSTF Statement on BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing

21 Aug, 2019 | 08:42h | UTC

BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing – US Preventive Services Task Force (free)

Editorials: Broadening Criteria for BRCA1/2 Evaluation: Placing the USPSTF Recommendation in Context – JAMA (free for a limited period) AND Hereditary Cancer Evaluation in 2019—a Rapidly Evolving Landscape – JAMA Oncology (free for a limited period) AND US Preventive Services Task Force Breast Cancer Recommendation Statement on Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer – JAMA Surgery (free for a limited period) AND USPSTF Recommendations for BRCA1 and BRCA2Testing in the Context of a Transformative National Cancer Control Plan – JAMA Network Open (free)

Author Interview: USPSTF Recommendation: Assessment, Counseling, and Testing for BRCA-Related Cancer (free audio)

Commentaries: More women should be assessed for BRCA mutations, new recommendations say – CNN (free) AND Expert panel updates advice on BRCA cancer gene screening – Reuters (free)


WHO Statement on Governance and Oversight of Human Genome Editing

11 Aug, 2019 | 21:38h | UTC

Statement on governance and oversight of human genome editing – World Health Organization (free)

Commentary: WHO Releases Statement Condemning Further Germline Genome Editing – Frontline Genomics (free)

Related: WHO Expert Panel Paves Way for Strong International Governance on Human Genome Editing (free)


ESMO Guideline: Hereditary Gastrointestinal Cancers

7 Aug, 2019 | 01:15h | UTC

Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up – Annals of Oncology (free PDF)

Related: ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes (free)


Series from the Lancet Journals: Genomic Medicine

7 Aug, 2019 | 01:05h | UTC

Series from the Lancet journals: Genomic medicine – The Lancet (free articles – registration required)


Related Commentary on Twitter


Consensus Guidelines on Genetic Testing for Hereditary Breast Cancer

25 Jul, 2019 | 01:20h | UTC

Consensus Guidelines on Genetic Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons – Annals of Surgical Oncology (free)


A Multidisciplinary Approach to the Clinical Management of Prader–Willi Syndrome

12 May, 2019 | 21:33h | UTC

A multidisciplinary approach to the clinical management of Prader–Willi syndrome – Molecular Genetics & Genomics Medicine (free)


AAP Clinical Report: Health Supervision for Children With Neurofibromatosis Type 1

11 May, 2019 | 14:22h | UTC

Health Supervision for Children With Neurofibromatosis Type 1 – Pediatrics (free)

News Release: AAP Updates Clinical Advice on Treating Children with Genetic Disorder, Neurofibromatosis Type 1 – American Academy of Pediatrics (free)


Consensus: Management of Gynecological Cancers in Lynch Syndrome

6 May, 2019 | 22:21h | UTC

The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome – Genetics in Medicine (free)


Guideline: Monitoring Children and Young People with, Or at Risk of Developing Autosomal Dominant Polycystic Kidney Disease

6 May, 2019 | 22:14h | UTC

Clinical practice guideline: monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD) – BMC Nephrology (free)


Consensus Recommendations: Management of Fabry Disease in Pediatric Patients

4 Apr, 2019 | 12:28h | UTC

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients – Clinical Genetics (free PDF)


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