Genetics & Rare Diseases
WHO Statement on Governance and Oversight of Human Genome Editing
11 Aug, 2019 | 21:38h | UTCStatement 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)
Study: “Liquid Biopsy” for Detection of Residual Disease after Neoadjuvant Therapy in Breast Cancer
11 Aug, 2019 | 21:30h | UTCPersonalized circulating tumor DNA analysis to detect residual disease after neoadjuvant therapy in breast cancer – Science Translational Medicine (free for a limited period)
Commentaries: New ‘liquid biopsy’ blood test improves breast cancer diagnostics – The Translational Genomics Research Institute (free) AND Circulating Tumor DNA Analysis for Detection of Residual Disease in Breast Cancer – The ASCO Post (free) AND Expert reaction to blood test to help tailor treatment for breast cancer patients – Science Media Centre (free)
Study: “Liquid Biopsy” for Relapse Detection in Early-Stage Breast Cancer
11 Aug, 2019 | 21:31h | UTCAssessment of Molecular Relapse Detection in Early-Stage Breast Cancer – JAMA Oncology (free for a limited period)
Commentaries: Circulating Tumor DNA as a Marker for Disease Relapse in Early-Stage Breast Cancer—Bad Blood – JAMA Oncology (free for a limited period) AND Liquid Biopsy in Breast Ca Finds Relapse Early – MedPage Today (free registration required)
Series from the Lancet Journals: Genomic Medicine
7 Aug, 2019 | 01:05h | UTCSeries from the Lancet journals: Genomic medicine – The Lancet (free articles – registration required)
Related Commentary on Twitter
Just published: A new 5-paper Series, with contributions from @genome_gov, focuses on the exciting and maturing area of #genomicmedicine, encompassing the use of individuals’ genetic information to guide clinical treatment https://t.co/5Wc3jkJAsy pic.twitter.com/Y1wfKtscu8
— The Lancet (@TheLancet) August 6, 2019
ESMO Guideline: Hereditary Gastrointestinal Cancers
7 Aug, 2019 | 01:15h | UTCRelated: ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes (free)
Perspective: Should the Rich Be Allowed to Buy the Best Genes?
29 Jul, 2019 | 20:02h | UTCShould the Rich Be Allowed to Buy the Best Genes? – Air Mail (free)
Consensus Guidelines on Genetic Testing for Hereditary Breast Cancer
25 Jul, 2019 | 01:20h | UTC
Autism: Large Study Suggests Genetics Account for 80% of the Risk
23 Jul, 2019 | 01:39h | UTCAssociation of Genetic and Environmental Factors With Autism in a 5-Country Cohort – JAMA Psychiatry (free for a limited period)
Editorial: The Architecture of Autism Spectrum Disorder Risk: What Do We Know, and Where Do We Go From Here? (free)
Commentaries: Genetic factors are primary cause of autism, study finds – UPI (free) AND Study provides ‘strongest evidence’ yet for autism being a genetic condition – News Medical (free) AND A new study reinforces the conclusion that autism is primarily genetic – Science Based Medicine (free)
Study: Health Lifestyle May Reduce the Incidence of Dementia Even in Patients with High Genetic Risk
16 Jul, 2019 | 09:42h | UTCAssociation of Lifestyle and Genetic Risk With Incidence of Dementia – JAMA (free for a limited period)
Commentaries: Healthy lifestyle reduces dementia risk even in those with genetic risk factors – NHS Choices (free) AND Healthy lifestyle may offset genetic risk of dementia – University of Exeter (free) AND Genes vs. lifestyle: Study ‘undermines fatalistic view of dementia’ – Medical News Today (free) AND Healthy living may help offset genetic risk of dementia: study – Reuters (free) AND Healthy lifestyle may cut risk of dementia regardless of genes – The Guardian (free)
High Iron Status Could Lead to Greater Risk of Bacterial Skin Infections
21 Jun, 2019 | 07:43h | UTCCommentary: High on iron? It stops anaemia but has a downside – University of South Australia (free)
Study: Targeting Huntingtin Expression in Patients with Huntington’s Disease
13 May, 2019 | 01:12h | UTCTargeting Huntingtin Expression in Patients with Huntington’s Disease – New England Journal of Medicine (link to abstract – $ for full-text)
Commentaries: Experimental Drug For Huntington’s Disease Jams Malfunctioning Gene – NPR (free) AND Huntington drug successfully lowers levels of disease-causing protein, study shows – University of British Columbia (free)
A Multidisciplinary Approach to the Clinical Management of Prader–Willi Syndrome
12 May, 2019 | 21:33h | UTC
AAP Clinical Report: Health Supervision for Children With Neurofibromatosis Type 1
11 May, 2019 | 14:22h | UTCHealth 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
Guideline: Monitoring Children and Young People with, Or at Risk of Developing Autosomal Dominant Polycystic Kidney Disease
6 May, 2019 | 22:14h | UTC
Copenhagen Consensus statement 2019: Physical Activity and Ageing
3 May, 2019 | 07:17h | UTC
Experimental Gene Therapy Frees ‘Bubble-boy’ Babies From a Life of Isolation
22 Apr, 2019 | 01:48h | UTCExperimental gene therapy frees ‘bubble-boy’ babies from a life of isolation – Nature (free)
Original Article: Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1 – New England Journal of Medicine (link to abstract – $ for full-text)
What Are Polygenic Scores and Why Are They Important?
10 Apr, 2019 | 06:04h | UTCWhat Are Polygenic Scores and Why Are They Important? – JAMA (free for a limited period)
Related: How Scientists are Learning to Predict Your Future with Your Genes (free)
“Before polygenic scores can be translated into clinical practice they will need to be extensively validated in clinical and population-based cohorts for their ability to predict meaningful outcomes that can be modified with intervention.”
Consensus Recommendations: Management of Fabry Disease in Pediatric Patients
4 Apr, 2019 | 12:28h | UTC
WHO Expert Panel Paves Way for Strong International Governance on Human Genome Editing
21 Mar, 2019 | 07:18h | UTCCommentaries: World Health Organization advisers call for registry of studies on human genome editing – STAT (free) AND W.H.O. Panel Demands a Registry for Human Gene Editing – The New York Times (10 articles per month are free) AND World Health Organization panel weighs in on CRISPR-babies debate – Nature (free)
Scientists Call for a Moratorium on Creating Genome Edited Babies
15 Mar, 2019 | 02:10h | UTCAdopt a moratorium on heritable genome editing – Nature (free)
Editorial: Germline gene-editing research needs rules (free)
Commentaries: Leading scientists, backed by NIH, call for a global moratorium on creating ‘CRISPR babies’ – STAT (free) AND Expert reaction to a call for a moratorium on heritable genome editing – Science Media Centre (free)
Related: Genome-Edited Baby Provokes International Outcry (free commentaries) AND Consensus Statement on the Reported Birth of Genome-Edited Babies in China (free)
Podcast: Genetic Testing in Primary Care
18 Feb, 2019 | 17:01h | UTC#139 Genetic Testing in Primary Care – The Curbsiders Internal Medicine Podcast (free audio)
Embryo Editing for Higher IQ is a Fantasy. Embryo Profiling for it is Almost Here
16 Feb, 2019 | 19:56h | UTCEmbryo editing for higher IQ is a fantasy. Embryo profiling for it is almost here – STAT (free)
NYT Editorial: Why You Should Be Careful About 23andMe’s Health Test
4 Feb, 2019 | 22:08h | UTCEditorial: Why You Should Be Careful About 23andMe’s Health Test – The New York Times (free)
Perspective: Promises, Promises, and Precision Medicine
30 Jan, 2019 | 00:56h | UTCPromises, promises, and precision medicine – JCI: The Journal of Clinical Investigation (free)
Related: Representing a “revolution”: how the popular press has portrayed personalized medicine – Genetics in Medicine (free)
“Hype vs. reality. Vast disconnect between actual achievements of “precision medicine” and how portrayed in popular culture” (via @CaulfieldTim see Tweet)
Related Commentary on Twitter
“Nearly two decades after the first predictions of dramatic success, we find no impact of the human genome project on the population’s life expectancy or any other public health measure.” @DrMJoyner & Paneth write a scathing piece on genomic medicine. https://t.co/MzCcM7vQWu pic.twitter.com/h04jaIstlX
— Muin J. Khoury (@MuinJKhoury) January 29, 2019