Health services articles within Nature Reviews Genetics

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• Comment | 28 January 2020

  Selling direct-to-consumer epigenetic tests: are we ready?

  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.

  • Charles Dupras
  • , Elisabeth Beauchamp
  •  & Yann Joly

• Comment | 01 April 2019

  A duty to recontact in genetics: context matters

  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.

  • Noor A. A. Giesbertz
  • , Wim H. van Harten
  •  & Annelien L. Bredenoord

• Consensus Statement
  11 July 2018 | Open Access

  Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

  Cornelia de Lange syndrome is a genetic disorder affecting multiple organ systems that exhibits great phenotypic heterogeneity. This Consensus Statement summarizes recommendations for the diagnosis and management of patients with Cornelia de Lange syndrome.

  • Antonie D. Kline
  • , Joanna F. Moss
  •  & Raoul C. Hennekam

• Review Article | 06 March 2017

  Autism genetics: opportunities and challenges for clinical translation

  Various large studies have provided unprecedented insights into the genetics of autism spectrum disorders (ASDs). This Review discusses the challenges and opportunities of translating genetic and biological insights into clinical progress for ASDs, in areas including genetic testing, ASD classification, genetic counselling, comorbidities and therapeutics.

  • Jacob A. S. Vorstman
  • , Jeremy R. Parr
  •  & Joachim F. Hallmayer

• Essay | 31 January 2017

  Evolving health care through personal genomics

  The advent of genomic technologies is changing health care systems, with genomic data increasingly being applied to guide individual patient care. In this Essay, Rehm discusses how genomics is becoming an essential part of clinical care and the existing challenges that must be surmounted to take full advantage of personal genomic information.

  • Heidi L. Rehm

• Science and Society | 04 August 2015

  Return of genetic testing results in the era of whole-genome sequencing

  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.

  • Bartha Maria Knoppers
  • , Ma'n H. Zawati
  •  & Karine Sénécal

• Correspondence | 13 December 2011

  Europe and direct-to-consumer genetic tests

  • Heidi Carmen Howard
  •  & Pascal Borry

• Research Highlight | 25 October 2011

  DNA theft: your genetic information at risk

  • Elizabeth E. Joh

• Research Highlight | 13 September 2011

  Direct-access genetic testing: the view from Europe

  • Larry J. Kricka
  • , Paolo Fortina
  •  & George P. Patrinos