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[Series] Genomic medicine for undiagnosed diseases

Ma, 06/08/2019 - 00:30
One of the primary goals of genomic medicine is to improve diagnosis through identification of genomic conditions, which could improve clinical management, prevent complications, and promote health. We explore how genomic medicine is being used to obtain molecular diagnoses for patients with previously undiagnosed diseases in prenatal, paediatric, and adult clinical settings. We focus on the role of clinical genomic sequencing (exome and genome) in aiding patients with conditions that are undiagnosed even after extensive clinical evaluation and testing.

[Series] Family health history: underused for actionable risk assessment

Ma, 06/08/2019 - 00:30
Family health history (FHH) is the most useful means of assessing risk for common chronic diseases. The odds ratio for risk of developing disease with a positive FHH is frequently greater than 2, and actions can be taken to mitigate risk by adhering to screening guidelines, genetic counselling, genetic risk testing, and other screening methods. Challenges to the routine acquisition of FHH include constraints on provider time to collect data and the difficulty in accessing risk calculators. Disease-specific and broader risk assessment software platforms have been developed, many with clinical decision support and informatics interoperability, but few access patient information directly.

[Comment] Genomic medicine: time for health-care transformation

Ma, 06/08/2019 - 00:30
Genomic medicine—the use of genetic information to inform medical care or predict risk of disease—is beginning to transform health care. The first human genome cost about US$3 billion to sequence.1,2 A whole human genome can now be sequenced for under $1000, and for even less it is possible to read targeted parts of the genome (panels) or the protein coding part (the exome). The timely and comprehensive Lancet Series on genomic medicine3–7 reviews the opportunities, challenges, resources, and techniques for application of next generation sequencing in health care.

[Series] Pharmacogenomics

Ma, 06/08/2019 - 00:30
Genomic medicine, which uses DNA variation to individualise and improve human health, is the subject of this Series of papers. The idea that genetic variation can be used to individualise drug therapy—the topic addressed here—is often viewed as within reach for genomic medicine. We have reviewed general mechanisms underlying variability in drug action, the role of genetic variation in mediating beneficial and adverse effects through variable drug concentrations (pharmacokinetics) and drug actions (pharmacodynamics), available data from clinical trials, and ongoing efforts to implement pharmacogenetics in clinical practice.

[Series] Building evidence and measuring clinical outcomes for genomic medicine

Ma, 06/08/2019 - 00:30
Human genomic sequencing has potential diagnostic, prognostic, and therapeutic value across a wide breadth of clinical disciplines. One barrier to widespread adoption is the paucity of evidence for improved outcomes in patients who do not already have an indication for more focused testing. In this Series paper, we review clinical outcome studies in genomic medicine and discuss the important features and key challenges to building evidence for next generation sequencing in the context of routine patient care.

[Perspectives] Teri Manolio: steering genomics into clinical medicine

Ma, 06/08/2019 - 00:30
After almost three decades of research in genomics, Teri Manolio, Director of Genomic Medicine at the National Human Genome Research Institute (NHGRI), Bethesda, MD, USA, believes we have reached a key moment when genomics is beginning to have an impact in clinical medicine. “The area of pharmacogenomics is a good example of clinical applicability as we can help guide clinical decision making according to drug reactions that are genetically mediated”, she says. Manolio, who is a lead author of a new Lancet genomic medicine Series, sees the emerging role of genomics in clinical medicine as a natural progression in aiding clinical decision making.

[Series] Opportunities, resources, and techniques for implementing genomics in clinical care

Ma, 06/08/2019 - 00:30
Advances in technologies for assessing genomic variation and an increasing understanding of the effects of genomic variants on health and disease are driving the transition of genomics from the research laboratory into clinical care. Genomic medicine, or the use of an individual's genomic information as part of their clinical care, is increasingly gaining acceptance in routine practice, including in assessing disease risk in individuals and their families, diagnosing rare and undiagnosed diseases, and improving drug safety and efficacy.

[Editorial] Saving the Pacific islands from extinction

Sa, 03/08/2019 - 00:00
Small island developing states are a distinct group of 58 low-lying island nations and territories across three geographical areas—Caribbean, Pacific, and Indian Ocean and African regions. For many, thoughts of the Pacific island countries conjure images of tropical beaches and pristine blue waters. But like all small island developing states, those in the Pacific region face threats to viability and survival due to their small landmass, geographical remoteness, and vulnerability to climate change and natural disasters.

[Editorial] Therapeutics in The Lancet

Sa, 03/08/2019 - 00:00
This week we launch a new section in The Lancet, which aims to provide up-to-date evidence-based reviews for clinicians on new and up-and-coming therapeutic options for diseases. The primary focus will be on new drugs in a specific disease, but broad-based reviews on a drug class or on new non-pharmacological options will also be included. The first Therapeutics paper on faecal microbiota transplantation is an excellent example of emerging therapeutic indications for restoration of the gut microbiota and reviews the treatment of recurrent Clostridioides difficile infection and potential other clinical uses.

[Editorial] Building capacity in Africa's national science academies

Sa, 03/08/2019 - 00:00
On July 23, the InterAcademy Partnership released Harnessing Science, Engineering and Medicine to Address Africa's Challenges, a call for greater collaboration and investment in Africa's national science academies from policymakers and international organisations such as the UN. Countries in Africa face enormous challenges that require scientific and technical solutions: climate change, infectious diseases such as HIV and Ebola virus disease, as well as non-communicable conditions. Across the continent, headway in achieving global Sustainable Development Goals (SDGs) is in places stagnant.

[Comment] JUUL Labs' sponsorship and the scientific integrity of vaping research

Sa, 03/08/2019 - 00:00
As of 2018, 98 countries regulate e-cigarettes, including their sale, marketing, packaging, manufacturing, taxation, reporting, and clean air laws.1 Some countries have banned e-cigarettes completely, such as Argentina, Saudi Arabia, and Singapore,1 whereas other countries, such as the UK, consider e-cigarettes as part of a public health harm reduction strategy.2 The USA has regulated e-cigarettes as a tobacco product since 2016. Launched in 2015, JUUL Labs Inc (hereafter JUUL Labs) is the current market leader in the USA for e-cigarettes and accounts for almost 80% of retail sales of e-cigarettes in the USA.

[World Report] Honduras's worst dengue outbreak in 50 years

Sa, 03/08/2019 - 00:00
Honduras is contending with more than 28 000 cases and at least 54 deaths, while the country battles other mosquito-spread diseases. Lise Alves reports.

[World Report] North Korea “on the verge of a food crisis”

Sa, 03/08/2019 - 00:00
The International Federation of Red Cross and Red Crescent Societies warn against drought-driven food crisis. Sharmila Devi reports.

[World Report] Africa's poorly kept science gender gap secrets

Sa, 03/08/2019 - 00:00
Progress towards getting girls interested in science in African countries has been good, but women scientist argue that more should be done to support their role in society. Paul Adepoju reports.

[Perspectives] Clarity in chaos

Sa, 03/08/2019 - 00:00
It feels inadequate to describe Esmé Weijun Wang's The Collected Schizophrenias as a beautiful little book, even though this is my initial response and I cannot ignore it. How could one person's experience with severe and enduring mental illness, containing so much struggle and confusion, be “beautiful”, and worse, “little”? On reflection, I'm responding to the tremendous care that Wang takes with her work, and her life—her conciseness, her refusal to waste words, and her overall curation of how she, and her mental illness, is seen.

[Perspectives] Punitive social policy: an upstream determinant of health

Sa, 03/08/2019 - 00:00
“I will be sending a man to prison for asking for food when he was hungry”, a UK judge professed before sentencing a homeless person to 4 months of jail for persistent begging. This is not an isolated incident. Across Europe, growing numbers of vulnerable people are targeted by public authorities for so-called anti-social behaviour, including a seemingly irrepressible yet inexplicable urge to sleep on pavements rather than beds, or to engage in open displays of material hardship.

[Obituary] Lewis E Braverman

Sa, 03/08/2019 - 00:00
Endocrinologist who helped define thyroid function. Born in 1929 in Boston, MA, USA, he died from Waldenström macroglobulinemia on June 10, 2019, in Boston aged 90 years.

[Correspondence] Is intima-media thickness a predictor for cardiovascular risk?

Sa, 03/08/2019 - 00:00
Ulf Näslund and colleagues1 suggest that the pictorial representation of silent atherosclerosis might contribute to the prevention of cardiovascular disease. However, several caveats need to be considered. The authors assume that increased intima-media thickness is still an established biomarker of subclinical atherosclerosis, but it is now known to be a very weak predictor of cardiovascular disease that does not add significant predictive capacity to traditional risk scores.2 Intima-media thickness measurement is no longer recommended in the 2013 American College of Cardiology and American Heart Association guidelines for cardiovascular disease risk prediction or in the 2016 European Guidelines on cardiovascular disease prevention in clinical practice.

[Correspondence] Is intima-media thickness a predictor for cardiovascular risk? – Authors' reply

Sa, 03/08/2019 - 00:00
We thank Alvaro Gonzalez-Cantero and colleagues for raising interesting questions regarding intima-media thickness as a predictor of cardiovascular disease.

[Correspondence] Early career investigators and precision public health

Sa, 03/08/2019 - 00:00
The priority schema for strategies that will be most consequential for improving the public's health is in hot debate.1–3 Vocal sceptics of precision public health caution against precision-based approaches, suggesting that focusing on these advances is not worth the effort and could overshadow the true mission of public health. Indeed, some leaders are putting substantial energy into advancing a negative narrative on this topic. The nihilistic tone of these critiques is concerning for the field, but particularly for early career investigators, like us, who are engaged in precision-based research.