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Achieving a diagnosis for Indigenous people living with a rare, often genetic, disease is crucial for equitable healthcare. The International Rare Disease Research Consortium convened a global Task Force to bridge the gap in diagnosing Indigenous rare diseases, and identify solutions to tackle the health inequity faced by Indigenous people.

The industry behind direct-to-consumer gene tests needs to establish guidelines for its wares.

Genotype-guided selection of oral P2Y₁₂ inhibitor therapy (clopidogrel versus prasugrel or ticagrelor) can reduce the incidence of bleeding in patients who have undergone primary percutaneous coronary intervention.

Long QT syndrome (LQTS) is the most common inherited cardiac arrhythmia and has been associated with mutations in 17 different genes; however, the evidence that many of these genes are actually causative for LQTS is limited or disputed.

The decision of patients with breast cancer to have contralateral mastectomies is often related to their genetic risk. However, the increasing frequency of this surgical approach is also associated with social and psychological issues such as celebrity experiences and fear of contralateral breast cancer. Appropriate counselling may better inform patients' surgical choices.

The proportion of female cardiologists is increasing in China, and they have special roles in clinical management and research. As the president of the Chinese Society of Cardiology, I believe female cardiologists excel in finding ways to balance family life with their career goals when they receive adequate support.

It has been 25 years since the release of GATTACA, a film that tells the story of a credible near future in which society’s inequalities, formerly associated with race and class, have been replaced with new prejudices based on genetic determinism. Here we compare GATTACA’s fictional technologies with reality’s state of the art, assessing the legal protections afforded in today’s society against GATTACA’s dystopian future in which personal freedom and privacy rights are substantially curtailed by genomic innovations. We further discuss how GATTACA’s prescient forewarnings are still relevant today in light of the current trajectory of genomic science and technology.

Non-invasive prenatal diagnostics allow for the successful identification of paternally inherited and de novo mongenic diseases using circulating cell-free DNA.

The US Food and Drug Administration (FDA) must clarify how it intends to enforce device regulation on direct-to-consumer (DTC) services that offer to interpret genome variation.

Many large research initiatives have cumulatively enrolled thousands of patients with a range of complex medical issues but no clear genetic etiology. However, it is unclear how researchers, institutions and funders should manage the data and relationships with those participants who remain undiagnosed when these studies end. In this Comment, we outline the current literature relevant to post-study obligations in clinical genomics research and discuss the application of current guidelines to research with undiagnosed participants.

Chronic kidney disease (CKD) is often clinically silent and traditional clinical data alone cannot differentiate disease subtypes. A recent study of the genetic basis of CKD in adults that examined the prevalence of monogenic kidney disease aetiologies supports the use of genetic analysis to improve diagnostics and treatment in CKD.

Non-invasive procedure could make prenatal testing easier, but it comes with ethical problems.

Telomeres may not predict how long we'll live, but they can still revolutionise medicine, says Nobel laureate Elizabeth Blackburn.

The past decade has yielded a host of important conceptual advances in epilepsy, along with some promising findings related to diagnostics and therapeutics. We are on an upswing where precise identification of the cause of a patient's seizure disorder can be matched to therapy that has a high likelihood of success.

The authors provide a comprehensive survey of international legislation and policies guiding the return of whole-genome-sequencing-based genetic testing results to patients or study participants, within the context of both clinical and research settings.

The clinical application of genomic technologies is driving new discoveries that may be relevant to individuals who have previously undergone genetic testing. This Comment highlights the need for a framework to decide whether to recontact patients and inform them of new genetic findings.

Direct-to-consumer epigenetic tests have the potential to reveal sensitive information about individuals, such as disease risk and exposure history. Yet regulation lags behind purely genetics-based tests. In this Comment article, the authors discuss the salient ethical and legal considerations of direct-to-consumer epigenetic tests.

Criticism of exclusive licences puts university policies in the spotlight.

By putting its foot in the door at the FDA, can 23andMe reinvigorate direct-to-consumer genomics? Malorye Allison investigates.

Researchers' efforts to collect samples at a fair raise ethical questions.

In 2016, novel findings on the role of predisposing gene variants in sarcoma oncogenesis were published, as well as studies addressing novel molecular classifications and results from randomized controlled trials highlighting successful new treatments. Herein, we discuss these meaningful advances.

A recent unbiased study found inflation of the genetic risk of endocrine tumour syndromes in the genotype–phenotype database ClinVar. Here, we discuss the interesting findings and point to potential limitations of this work in light of the recently established consensus statement of the Pheochromocytomas and Paragangliomas (NGSnPPGL) Study Group.

A major goal of precision medicine is to improve disease prevention and therapy by using big data provided by genomic technology and electronic health records. In a new study, assessment of a patient population without a history of cardiac disease revealed that genetic variants putatively associated with a risk of sudden death were not linked with arrhythmia phenotypes.

Three new studies have used whole-genome sequencing of M. tuberculosis to demonstrate unexpected complexity in the modern evolution of drug-resistant tuberculosis, and a fourth study suggests a close evolutionary relationship between the pathogen and its human host over a period of 70,000 years. Collectively, the observations in these studies suggest that future strategies to tackle drug-resistant tuberculosis must integrate host genetics with detailed strain epidemiology.

Mutations in six genes have been unequivocally linked to Parkinson disease (PD). A recent study found that among 953 patients with the early-onset form of PD, ≈17% harbored a mutation in one of these genes. This finding raises important issues concerning genetic testing and genetic counseling for early-onset PD.

A new study compares the copy number variants (CNVs) in 29,085 children with developmental delay to those in 19,584 healthy controls, providing a valuable compilation of such data. The phenotypic variability and wide range of penetrance for these variants present societal challenges regarding how these findings might be incorporated into newborn screening, early intervention and, perhaps, carrier testing and prenatal diagnosis.

Current ontologies of race, ethnicity and genetic ancestry rely on categorization, but have limitations — as exemplified by multiracial individuals. We argue that including these individuals will foster inclusion by better capturing complex identities, with equity benefits for the full human population.