Genetic testing articles within Nature

Featured

• Perspective
  23 April 2014 | Open Access

  Guidelines for investigating causality of sequence variants in human disease

  Acceleration in discovery of rare genetic variants possibly linked with disease may mean an increased risk of false-positive reports of causality; this Perspective proposes guidelines to distinguish disease-causing sequence variants from the many potentially functional variants in a human genome, and to assess confidence in their pathogenicity, and highlights priority areas for development.

  • D. G. MacArthur
  • , T. A. Manolio
  •  & C. Gunter

• Books & Arts | 12 December 2012

  Genetics: Testing infant destinies

  Henry Greely hails a study examining California's experience of mandatory newborn genetic screening.

  • Henry T. Greely

• Comment | 31 October 2012

  Politics and fetal diagnostics collide

  Without better regulation, non-invasive prenatal genetic tests will be targeted by US anti-abortion lobbyists, argues Jaime S. King.

  • Jaime S. King

• News & Views | 18 July 2012

  Fetal genes in mother's blood

  The genome sequence of a fetus can be inferred from the relative numbers of variants of DNA sequences in a pregnant woman's blood. This advance in non-invasive diagnostics comes with some ramifications. See Article p.320

  • Diana W. Bianchi

• News | 27 June 2012

  Fetal tests spur legal battle

  A newborn industry based on non-invasive genetic testing turns combative.

  • Erika Check Hayden

• Research Highlights | 20 June 2012

  Sequencing tracks outbreak

• News | 12 June 2012

  Genome test slammed for assessing ‘racial purity’

  Hungarian far-right politician certified as ‘free of Jewish and Roma’ genes.

  • Alison Abbott

• News | 17 April 2012

  Gene hunt is on for mental disability

  Pioneering clinical genome-sequencing projects focus on patients with developmental delay.

  • Ewen Callaway

• Editorial | 21 March 2012

  Incidental benefits

  Scientists who screen the genes of volunteers for research should tell participants if they find information relevant to their health.

• News Feature | 29 February 2012

  Rare diseases: Genomics, plain and simple

  A Pennsylvania clinic working with Amish and Mennonite communities could be a model for personalized medicine.

  • Trisha Gura

• Research Highlights | 01 February 2012

  Sequencing diagnoses disease

• News | 25 October 2011

  Fetal gene screening comes to market

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

  • Erika Check Hayden

• News | 05 October 2011

  Nature readers flirt with personal genomics

  Survey reveals eagerness to use latest DNA technologies.

  • Brendan Maher

• Comment | 03 August 2011

  Growth of genome screening needs debate

  There could be unexpected consequences if greater understanding of disease genetics gives parents more choice in what they pass to their children, says David B. Goldstein.

  • David B. Goldstein

• Editorial | 13 July 2011

  There will be blood

  Screening of newborns for genetic disorders is important, but so is educating parents to ensure that they give the proper consent.

• News Feature | 13 July 2011

  Newborn screening: A spot of trouble

  By raising hell about newborn blood-spot screening, Twila Brase could jeopardize public-health programmes and derail research. The problem is, she has a point.

  • Mary Carmichael

• News Q&A | 28 May 2011

  Spit test offers guide to health

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

  • Jo Marchant

• News | 28 March 2011

  DNA mismatch reveals organ rejection

  A test that spots donor DNA in a transplant recipient's bloodstream could replace invasive biopsies.

• Research Highlights | 09 March 2011

  Prenatal test for Down's syndrome

• Comment | 19 January 2011

  Get ready for the flood of fetal gene screening

  Regulators, doctors and patients need to prepare for the ethical, legal and practical effects of sequencing fetal genomes from mothers' blood, says Henry T. Greely.

  • Henry T. Greely

• News | 18 January 2011

  Report supports embryo genetic tests in Germany

  National academy recommends legalizing tests where there is risk of serious incurable disease.

  • Alison Abbott

• News | 12 January 2011

  People prove impervious to anxiety from genetic tests

  The results of direct-to-consumer tests relating to the risk of developing diseases seem easy to swallow.

  • Cassandra Willyard

• Outlook | 22 December 2010

  Health: Edible advice

  Diet-related illnesses are some of the biggest killers today. Can we tailor our food intake to prevent these diseases? Large international projects are underway to find out.

  • Farooq Ahmed

• Research Highlights | 15 December 2010

  Genetic testing: It's never too early to get sequenced

• News | 08 December 2010

  Baby's genome hidden in mother's blood

  A complete fetal genome can be deduced from maternal DNA.

  • Ewen Callaway

• News | 12 October 2010

  Cancer-gene testing ramps up

  Thousands to get personalized medicine in Britain's National Health Service.

  • Ewen Callaway

• News Q&A | 21 September 2010

  California's genetic education

  Geneticist Jasper Rine reflects on a controversial gene-testing programme.

  • Zoë Corbyn

• News | 01 September 2010

  Kids swap DNA for fairground rides

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

  • Ewen Callaway

• Correspondence | 25 August 2010

  Consumers have a right to affordable genetic testing

  • Christopher Kanan

• Editorial | 11 August 2010

  Standard issue

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

• Opinion | 11 August 2010

  Which way for genetic-test regulation? Leave test interpretation to specialists

  Although largely unregulated, genetic tests are increasingly used to diagnose conditions, map ancestry or predict disease risk. In this, the first of two related pieces, Arthur L. Beaudet advocates the US Food and Drug Administration banning direct-to-consumer medical tests but leaving the analysis of clinical diagnostics to specialists. In the second, Gail Javitt argues that the agency should implement a regulatory framework for all health-related tests.

  • Arthur L. Beaudet

• Opinion | 11 August 2010

  Which way for genetic-test regulation? Assign regulation appropriate to the level of risk

  Although largely unregulated, genetic tests are increasingly used to diagnose conditions, map ancestry or predict disease risk. In this, the second of two related pieces, Gail Javitt argues that the US Food and Drug Administration should implement a regulatory framework for all health-related tests. In the first, Arthur L. Beaudet advocates the agency banning direct-to-consumer medical tests but leaving the analysis of clinical diagnostics to specialists.

  • Gail Javitt

• News | 29 July 2010

  Consumer gene testing in the hotseat

  A week of hearings sows uncertainty for the fledgling consumer genomics industry.

  • Alla Katsnelson

• Editorial | 16 June 2010

  A DNA education

  Taking personal genetic testing into the classroom brings ethical and legal sensitivities to the fore.

• Correspondence | 12 May 2010

  Making the case for low-template DNA analysis

  • Andrew Rennison

• News | 28 April 2010

  Twin study surveys genome for cause of multiple sclerosis

  Mapping milestone emphasizes complexity of disease.

  • Alla Katsnelson

• Editorial | 14 April 2010

  Testing time for gene patents

  A surprising US court decision highlights the need to modernize gene-patenting practices if patients are to benefit from advances in genetic research.

• News | 26 January 2010

  Lawsuit rekindles gene-patent debate

  Criticism of exclusive licences puts university policies in the spotlight.

  • Brendan Borrell