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  1. Article ; Online: Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal.

    Wolf, Susan M / Green, Robert C

    Annual review of genomics and human genetics

    2023  Volume 24, Page(s) 393–414

    Abstract: Genome sequencing is increasingly used in research and integrated into clinical care. In the research domain, large-scale analyses, including whole genome sequencing with variant interpretation and curation, virtually guarantee identification of variants ...

    Abstract Genome sequencing is increasingly used in research and integrated into clinical care. In the research domain, large-scale analyses, including whole genome sequencing with variant interpretation and curation, virtually guarantee identification of variants that are pathogenic or likely pathogenic and actionable. Multiple guidelines recommend that findings associated with actionable conditions be offered to research participants in order to demonstrate respect for autonomy, reciprocity, and participant interests in health and privacy. Some recommendations go further and support offering a wider range of findings, including those that are not immediately actionable. In addition, entities covered by the US Health Insurance Portability and Accountability Act (HIPAA) may be required to provide a participant's raw genomic data on request. Despite these widely endorsed guidelines and requirements, the implementation of return of genomic results and data by researchers remains uneven. This article analyzes the ethical and legal foundations for researcher duties to offer adult participants their interpreted results and raw data as the new normal in genomic research.
    MeSH term(s) Genomics/methods ; Whole Genome Sequencing/methods ; Humans ; United States Food and Drug Administration ; United States ; Information Storage and Retrieval ; Health Insurance Portability and Accountability Act
    Language English
    Publishing date 2023-03-13
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S. ; Review
    ZDB-ID 2037670-4
    ISSN 1545-293X ; 1527-8204
    ISSN (online) 1545-293X
    ISSN 1527-8204
    DOI 10.1146/annurev-genom-101122-103209
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Ready or not, genomic screening of fetuses is already here.

    Gold, Nina B / Nadel, Allan / Green, Robert C

    Genetics in medicine : official journal of the American College of Medical Genetics

    2023  Volume 26, Issue 1, Page(s) 101008

    MeSH term(s) Humans ; Female ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography, Prenatal ; Genomics ; Fetus/diagnostic imaging
    Language English
    Publishing date 2023-10-17
    Publishing country United States
    Document type Editorial
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2023.101008
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Prioritizing the detection of rare pathogenic variants in population screening.

    Lacaze, Paul / Manchanda, Ranjit / Green, Robert C

    Nature reviews. Genetics

    2023  Volume 24, Issue 4, Page(s) 205–206

    MeSH term(s) Humans ; Mutation ; Genetic Predisposition to Disease
    Language English
    Publishing date 2023-01-10
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2035157-4
    ISSN 1471-0064 ; 1471-0056
    ISSN (online) 1471-0064
    ISSN 1471-0056
    DOI 10.1038/s41576-022-00571-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Reevaluating the "right not to know" in genomics research.

    Gold, Nina B / Green, Robert C

    Genetics in medicine : official journal of the American College of Medical Genetics

    2021  Volume 24, Issue 2, Page(s) 289–292

    MeSH term(s) Disclosure ; Genomics ; Humans
    Language English
    Publishing date 2021-11-30
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2021.10.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Maximizing matching, equity and survival in kidney transplantation using molecular HLA immunogenicity quantitation.

    Syed, Fayeq Jeelani / Bekbolsynov, Dulat / Stepkowski, Stanislaw / Kaur, Devinder / Green, Robert C

    Computers in biology and medicine

    2024  Volume 174, Page(s) 108452

    Abstract: HLA matching improves long-term outcomes of kidney transplantation, yet implementation challenges persist, particularly within the African American (Black) patient demographic due to donor scarcity. Consequently, kidney survival rates among Black ... ...

    Abstract HLA matching improves long-term outcomes of kidney transplantation, yet implementation challenges persist, particularly within the African American (Black) patient demographic due to donor scarcity. Consequently, kidney survival rates among Black patients significantly lag behind those of other racial groups. A refined matching scheme holds promise for improving kidney survival, with prioritized matching for Black patients potentially bolstering rates of HLA-matched transplants. To facilitate quantity, quality and equity in kidney transplants, we propose two matching algorithms based on quantification of HLA immunogenicity using the hydrophobic mismatch score (HMS) for prospective transplants. We mined the national transplant patient database (SRTR) for a diverse group of donors and recipients with known racial backgrounds. Additionally, we use novel methods to infer survival assessment in the simulated transplants generated by our matching algorithms, in the absence of actual target outcomes, utilizing modified unsupervised clustering techniques. Our allocation algorithms demonstrated the ability to match 87.7% of Black and 86.1% of White recipients under the HLA immunogenicity threshold of 10. Notably, at the lowest HMS threshold of 0, 4.4% of Black and 12.1% of White recipients were matched, a marked increase from the 1.8% and 6.6% matched under the prevailing allocation scheme. Furthermore, our allocation algorithms yielded similar or improved survival rates, as illustrated by Kaplan-Meier (KM) curves, and enhanced survival prediction accuracy, evidenced by C-indices and Integrated Brier Scores.
    MeSH term(s) Kidney Transplantation ; Humans ; HLA Antigens/immunology ; Histocompatibility Testing/methods ; Algorithms ; Black or African American ; Male ; Female ; Graft Survival/immunology
    Chemical Substances HLA Antigens
    Language English
    Publishing date 2024-04-09
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 127557-4
    ISSN 1879-0534 ; 0010-4825
    ISSN (online) 1879-0534
    ISSN 0010-4825
    DOI 10.1016/j.compbiomed.2024.108452
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Book: Diagnosis and management of Alzheimer's disease and other dementias

    Green, Robert C.

    2001  

    Author's details Robert C. Green
    Language English
    Size X, 224 S. : Ill., graph. Darst.
    Edition 1. ed.
    Publisher Professional Communications
    Publishing place Caddo, OK
    Publishing country United States
    Document type Book
    HBZ-ID HT013229989
    ISBN 1-884735-41-X ; 978-1-884735-41-7
    Database Catalogue ZB MED Medicine, Health

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  7. Article ; Online: Polygenic risk scores in the clinic: Translating risk into action.

    Lewis, Anna C F / Green, Robert C / Vassy, Jason L

    HGG advances

    2021  Volume 2, Issue 4, Page(s) 100047

    Abstract: Polygenic risk scores (PRSs) are heralded as useful tools for risk stratification and personalized preventive care, but they are clinically useful only if they can be translated into action. The risk information conveyed by a PRS must be contextualized ... ...

    Abstract Polygenic risk scores (PRSs) are heralded as useful tools for risk stratification and personalized preventive care, but they are clinically useful only if they can be translated into action. The risk information conveyed by a PRS must be contextualized to enable this. Best practices are evolving but are likely to involve integrating a PRS into an absolute risk model and using guideline-driven care linked to a specific threshold of risk. Because this approach is not currently available for most diseases, it may be necessary to use different methods of presenting risk and linking it to appropriate clinical action. We discuss the trade-offs of each strategy and argue for transparent communication to providers and patients of the imprecision in both risk estimates and action thresholds for PRSs.
    Language English
    Publishing date 2021-07-28
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2666-2477
    ISSN (online) 2666-2477
    DOI 10.1016/j.xhgg.2021.100047
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: An international policy on returning genomic research results.

    Lewis, Anna C F / Knoppers, Bartha Maria / Green, Robert C

    Genome medicine

    2021  Volume 13, Issue 1, Page(s) 115

    Abstract: The Global Alliance for Genomics and Health has approved a policy for the return of clinically actionable genomic research results, the first such policy approved by an international body. The policy acknowledges the potential medical benefits to ... ...

    Abstract The Global Alliance for Genomics and Health has approved a policy for the return of clinically actionable genomic research results, the first such policy approved by an international body. The policy acknowledges the potential medical benefits to millions of individuals who are participating in genomics research. It ties the pace of implementation to each country's clinical standards, including for the return of secondary findings, and urges funders to set aside resources to support responsible return.
    MeSH term(s) Biomedical Research/legislation & jurisprudence ; Biomedical Research/methods ; Genetic Association Studies ; Genomics/legislation & jurisprudence ; Genomics/methods ; Humans ; Internationality ; Policy ; Research/legislation & jurisprudence
    Language English
    Publishing date 2021-07-15
    Publishing country England
    Document type Journal Article
    ZDB-ID 2484394-5
    ISSN 1756-994X ; 1756-994X
    ISSN (online) 1756-994X
    ISSN 1756-994X
    DOI 10.1186/s13073-021-00928-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues.

    Lewis, Anna C F / Green, Robert C

    Genome medicine

    2021  Volume 13, Issue 1, Page(s) 14

    Abstract: Clinical use of polygenic risk scores (PRS) will look very different to the more familiar monogenic testing. Here we argue that despite these differences, most of the ethical, legal, and social issues (ELSI) raised in the monogenic setting, such as the ... ...

    Abstract Clinical use of polygenic risk scores (PRS) will look very different to the more familiar monogenic testing. Here we argue that despite these differences, most of the ethical, legal, and social issues (ELSI) raised in the monogenic setting, such as the relevance of results to family members, the approach to secondary and incidental findings, and the role of expert mediators, continue to be relevant in the polygenic context, albeit in modified form. In addition, PRS will reanimate other old debates. Their use has been proposed both in the practice of clinical medicine and of public health, two contexts with differing norms. In each of these domains, it is unclear what endpoints clinical use of PRS should aim to maximize and under what constraints. Reducing health disparities is a key value for public health, but clinical use of PRS could exacerbate race-based health disparities owing to differences in predictive power across ancestry groups. Finally, PRS will force a reckoning with pre-existing questions concerning biomarkers, namely the relevance of self-reported race, ethnicity and ancestry, and the relationship of risk factors to disease diagnoses. In this Opinion, we argue that despite the parallels to the monogenic setting, new work is urgently needed to gather data, consider normative implications, and develop best practices around this emerging branch of genomics.
    MeSH term(s) Biomarkers/metabolism ; Clinical Medicine ; Ethics, Medical ; Family ; Genetic Predisposition to Disease ; Humans ; Multifactorial Inheritance/genetics ; Public Health ; Risk Factors
    Chemical Substances Biomarkers
    Language English
    Publishing date 2021-01-28
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2484394-5
    ISSN 1756-994X ; 1756-994X
    ISSN (online) 1756-994X
    ISSN 1756-994X
    DOI 10.1186/s13073-021-00829-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Biobanks could identify medically actionable findings relevant for COVID-19 clinical care.

    Stergachis, Andrew B / Weiss, Scott T / Green, Robert C

    Nature medicine

    2020  Volume 26, Issue 7, Page(s) 991

    MeSH term(s) Betacoronavirus/genetics ; Biological Specimen Banks/statistics & numerical data ; COVID-19 ; Coronavirus Infections/diagnosis ; Coronavirus Infections/epidemiology ; Coronavirus Infections/genetics ; Coronavirus Infections/pathology ; Genetic Predisposition to Disease/epidemiology ; Genetic Testing/methods ; Genomics/methods ; Humans ; Pandemics ; Pneumonia, Viral/diagnosis ; Pneumonia, Viral/epidemiology ; Pneumonia, Viral/genetics ; Pneumonia, Viral/pathology ; Population Surveillance/methods ; Prognosis ; Risk Factors ; SARS-CoV-2 ; Severity of Illness Index ; Specimen Handling/methods ; Specimen Handling/statistics & numerical data ; Transcriptome ; Whole Exome Sequencing ; Workflow
    Keywords covid19
    Language English
    Publishing date 2020-06-15
    Publishing country United States
    Document type Letter
    ZDB-ID 1220066-9
    ISSN 1546-170X ; 1078-8956
    ISSN (online) 1546-170X
    ISSN 1078-8956
    DOI 10.1038/s41591-020-0953-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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