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Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

December 13, 2018 dna 0
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Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

Eur J Hum Genet. 2018 01;26(1):12-33

Authors: Harper JC, Aittomäki K, Borry P, Cornel MC, de Wert G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I, Lundin K, Mertes H, Morris M, Pennings G, Sermon K, Spits C, Soini S, van Montfoort APA, Veiga A, Vermeesch JR, Viville S, Macek M, on behalf of the European Society of Human Reproduction and Embryology and European Society of Human Genetics

Abstract
Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.

PMID: 29199274 [PubMed – indexed for MEDLINE]

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Forensic genealogy: Some serious concerns.

December 13, 2018 dna 0
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Forensic genealogy: Some serious concerns.

Forensic Sci Int Genet. 2018 09;36:203-204

Authors: Syndercombe Court D

Abstract
Genealogical databases have provided links to possible perpetrators of crimes in several cold cases in the US. This commentary discusses some of the ethical issues associated with this approach while recognising the underlying value of the identifications.

PMID: 30048922 [PubMed – indexed for MEDLINE]

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HIPAA’s Individual Right of Access to Genomic Data: Reconciling Safety and Civil Rights.

December 13, 2018 dna 0
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HIPAA’s Individual Right of Access to Genomic Data: Reconciling Safety and Civil Rights.

Am J Hum Genet. 2018 01 04;102(1):5-10

Authors: Evans BJ

Abstract
In 2014, the United States granted individuals a right of access to their own laboratory test results, including genomic data. Many observers feel that this right is in tension with regulatory and bioethical standards designed to protect the safety of people who undergo genomic testing. This commentary attributes this tension to growing pains within an expanding federal regulatory program for genetic and genomic testing. The Genetic Information Nondiscrimination Act of 2008 expanded the regulatory agenda to encompass civil rights and consumer safety. The individual access right, as it applies to genomic data, is best understood as a civil-rights regulation. Competing regulatory objectives-safety and civil rights-were not successfully integrated during the initial rollout of genomic civil-rights regulations after 2008. Federal law clarifies how to prioritize safety and civil rights when the two come into conflict, although with careful policy design, the two need not collide. This commentary opens a dialog about possible solutions to advance safety and civil rights together.

PMID: 29304376 [PubMed – indexed for MEDLINE]