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Article ; Online: Considering the possibilities and pitfalls of Generative Pre-trained Transformer 3 (GPT-3) in healthcare delivery.

Korngiebel, Diane M / Mooney, Sean D

NPJ digital medicine

2021 Volume 4, Issue 1, Page(s) 93

Language	English
Publishing date	2021-06-03
Publishing country	England
Document type	Journal Article
ISSN	2398-6352
ISSN (online)	2398-6352
DOI	10.1038/s41746-021-00464-x
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Patient Recommendations for the Content and Design of Electronic Returns of Genetic Test Results: Interview Study Among Patients Who Accessed Their Genetic Test Results via the Internet.

Korngiebel, Diane M / West, Kathleen McGlone

JMIRx med

2022 Volume 3, Issue 2, Page(s) e29706

Abstract: Background: Genetic test results will be increasingly made available electronically as more patient-facing tools are developed; however, little research has been done that collects data on patient preferences for content and design before creating ... ...

Abstract	Background: Genetic test results will be increasingly made available electronically as more patient-facing tools are developed; however, little research has been done that collects data on patient preferences for content and design before creating results templates. Objective: This study identifies patient preferences for the electronic return of genetic test results, including what considerations should be prioritized for content and design. Methods: Following user-centered design methods, 59 interviews were conducted by using semistructured protocols. The interviews explored the content and design issues of patient portals that facilitated the return of test results to patients. We interviewed patients who received electronic results for specific types of genetics tests (pharmacogenetic tests, hereditary blood disorder tests, and tests for the risk of heritable cancers) or electronically received any type of genetic or nongenetic test results. Results: In general, many of participants felt that there always needed to be some clinician involvement in electronic result returns and that electronic coversheets with simple summaries would be helpful for facilitating this. Coversheet summaries could accompany, but not replace, the more detailed report. Participants had specific suggestions for such results summaries, such as only reporting the information that was the most important for patients to understand, including next steps, and doing so by using clear language that is free of medical jargon. Electronic result returns should also include explicit encouragement for patients to contact health care providers about questions. Finally, many participants preferred to manage their care by using their smartphones, particularly in instances when they needed to access health information on the go. Conclusions: Participants recommended that a patient-friendly front section should accompany the more detailed report and made suggestions for organization, content, and wording. Many used their smartphones regularly to access test results; therefore, health systems and patient portal software vendors should accommodate smartphone app design and web portal design concomitantly when developing platforms for returning results.
Language	English
Publishing date	2022-05-31
Publishing country	Canada
Document type	Journal Article
ISSN	2563-6316
ISSN (online)	2563-6316
DOI	10.2196/29706
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Article ; Online: Considering the possibilities and pitfalls of Generative Pre-trained Transformer 3 (GPT-3) in healthcare delivery

Diane M. Korngiebel / Sean D. Mooney

npj Digital Medicine, Vol 4, Iss 1, Pp 1-

2021 Volume 3

Abstract: Natural language computer applications are becoming increasingly sophisticated and, with the recent release of Generative Pre-trained Transformer 3, they could be deployed in healthcare-related contexts that have historically comprised human-to-human ... ...

Abstract	Natural language computer applications are becoming increasingly sophisticated and, with the recent release of Generative Pre-trained Transformer 3, they could be deployed in healthcare-related contexts that have historically comprised human-to-human interaction. However, for GPT-3 and similar applications to be considered for use in health-related contexts, possibilities and pitfalls need thoughtful exploration. In this article, we briefly introduce some opportunities and cautions that would accompany advanced Natural Language Processing applications deployed in eHealth.
Keywords	Computer applications to medicine. Medical informatics ; R858-859.7
Language	English
Publishing date	2021-06-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Closing the gap between knowledge and clinical application: challenges for genomic translation.

Burke, Wylie / Korngiebel, Diane M

PLoS genetics

2015 Volume 11, Issue 2, Page(s) e1004978

Abstract: Despite early predictions and rapid progress in research, the introduction of personal genomics into clinical practice has been slow. Several factors contribute to this translational gap between knowledge and clinical application. The evidence available ... ...

Abstract	Despite early predictions and rapid progress in research, the introduction of personal genomics into clinical practice has been slow. Several factors contribute to this translational gap between knowledge and clinical application. The evidence available to support genetic test use is often limited, and implementation of new testing programs can be challenging. In addition, the heterogeneity of genomic risk information points to the need for strategies to select and deliver the information most appropriate for particular clinical needs. Accomplishing these tasks also requires recognition that some expectations for personal genomics are unrealistic, notably expectations concerning the clinical utility of genomic risk assessment for common complex diseases. Efforts are needed to improve the body of evidence addressing clinical outcomes for genomics, apply implementation science to personal genomics, and develop realistic goals for genomic risk assessment. In addition, translational research should emphasize the broader benefits of genomic knowledge, including applications of genomic research that provide clinical benefit outside the context of personal genomic risk.
MeSH term(s)	Early Detection of Cancer ; Genetic Testing ; Genome, Human ; Genomics ; Humans ; Neoplasms/diagnosis ; Neoplasms/genetics ; Precision Medicine ; Translational Medical Research
Language	English
Publishing date	2015-02-26
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Review
ZDB-ID	2186725-2
ISSN	1553-7404 ; 1553-7390
ISSN (online)	1553-7404
ISSN	1553-7390
DOI	10.1371/journal.pgen.1004978
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Article ; Online: Implementing Precision Medicine: The Ethical Challenges.

Korngiebel, Diane M / Thummel, Kenneth E / Burke, Wylie

Trends in pharmacological sciences

2017 Volume 38, Issue 1, Page(s) 8–14

Abstract: Precision medicine aims to individualize care by understanding differences in genetics, lifestyle, and environment. Pharmacogenomics and cancer genetics represent two promising areas for this approach. Pharmacogenomic tests have the potential to direct ... ...

Abstract	Precision medicine aims to individualize care by understanding differences in genetics, lifestyle, and environment. Pharmacogenomics and cancer genetics represent two promising areas for this approach. Pharmacogenomic tests have the potential to direct drug prescribing to increase safety and effectiveness because individuals vary on a genetic basis in their response to many drugs. Similarly, tests to identify people with an inherited cancer risk can guide prevention. For both, a few tests have entered clinical practice and more are under development. Implementation challenges include the limited evidence base available to guide clinical use and the lack of data from diverse populations. Accordingly, ongoing research should prioritize procedures that enhance the trustworthiness of clinical practice guidelines and create decision support for clinicians and patients that address their needs and accommodate flexibility. Each step involves choices with ethical implications.
MeSH term(s)	Decision Support Systems, Clinical ; Humans ; Neoplasms/prevention & control ; Pharmacogenetics ; Practice Guidelines as Topic ; Precision Medicine/ethics
Language	English
Publishing date	2017-01
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	282846-7
ISSN	1873-3735 ; 0165-6147
ISSN (online)	1873-3735
ISSN	0165-6147
DOI	10.1016/j.tips.2016.11.007
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Article ; Online: Identifying "ownership" through role descriptions to support implementing universal colorectal cancer tumor screening for Lynch syndrome.

West, Kathleen M / Burke, Wylie / Korngiebel, Diane M

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

2017 Volume 19, Issue 11, Page(s) 1236–1244

Abstract: PurposeLynch syndrome cases are underidentified, and universal colorectal cancer tumor screening for Lynch syndrome (UTS) has been recommended. UTS implementation is challenging and few successful examples exist to date, and colorectal cancer patients ... ...

Abstract	PurposeLynch syndrome cases are underidentified, and universal colorectal cancer tumor screening for Lynch syndrome (UTS) has been recommended. UTS implementation is challenging and few successful examples exist to date, and colorectal cancer patients and at-risk family members exhibit low uptake of genetic services. This study sought to identify the elements that could guide the choice of specialties to implement UTS through three main stages: initiating the screen, returning positive screen results, and providing follow-up.MethodsTo understand stakeholder views on the UTS process, 20 semistructured interviews were conducted with clinicians from six medical specialties crucial for implementing UTS. Data were analyzed using directed content analysis and additional thematic analysis across content categories.ResultsSeveral clinical specialties could fill necessary roles at each of the main stages of UTS implementation. Participants suggested owners based on attributes of specialty roles, clinical settings, and the routes patients take through the system.ConclusionUTS is considered possible in a range of health-care settings, with tailoring. Health systems need to choose who best fills the role's needs based on local resources and processes. These results offer implementation guidance based on role needs, not clinical specialty, in resolving the issue of UTS "ownership."
MeSH term(s)	Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Female ; Follow-Up Studies ; Humans ; Male ; Mass Screening ; Medicine ; Physician's Role ; Stakeholder Participation
Language	English
Publishing date	2017-05-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/gim.2017.39
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Article ; Online: Clinician-Stakeholders' Perspectives on Using Patient Portals to Return Lynch Syndrome Screening Results.

Korngiebel, Diane M / West, Kathleen M / Burke, Wylie

Journal of genetic counseling

2017 Volume 27, Issue 2, Page(s) 349–357

Abstract: Test results for genetic conditions, such as Lynch Syndrome (LS), have traditionally been returned by genetic counselors or other providers who can explain results implications and provide psychosocial support. Returning genetic results through an ... ...

Abstract	Test results for genetic conditions, such as Lynch Syndrome (LS), have traditionally been returned by genetic counselors or other providers who can explain results implications and provide psychosocial support. Returning genetic results through an Electronic Health Record's patient portal may increase the efficiency of returning results and could activate patient follow-up; however, stakeholder input is necessary to determine acceptability and appropriate implementation for LS. Twenty interviews were conducted with clinicians from six specialties involved in LS screening that represent a range of settings. Data were analyzed using directed content analysis and thematic analysis across content categories. Participants felt that patient portals could supplement personal calls, but the potential sensitive nature of LS screening results indicated the need for caution. Others felt that LS results could be returned through portals if there were clear explanations of the result, reputable additional information available within the portal, urging follow up confirmatory testing, and a referral to a genetics specialist. Patient portals were seen as helpful for prompting patient follow-up and providing resources to notify at-risk family members. There is potential for patient portals to return LS screening and other genetic results, however we raise several issues to resolve before implementation is warranted.
MeSH term(s)	Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Female ; Genetic Testing ; Humans ; Male ; Mass Screening ; Middle Aged ; Patient Portals
Language	English
Publishing date	2017-11-21
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1117799-8
ISSN	1573-3599 ; 1059-7700
ISSN (online)	1573-3599
ISSN	1059-7700
DOI	10.1007/s10897-017-0179-3
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: AMIA's code of professional and ethical conduct 2022.

Petersen, Carolyn / Berner, Eta S / Cardillo, Anthony / Fultz Hollis, Kate / Goodman, Kenneth W / Koppel, Ross / Korngiebel, Diane M / Lehmann, Christoph U / Solomonides, Anthony E / Subbian, Vignesh

Journal of the American Medical Informatics Association : JAMIA

2022 Volume 30, Issue 1, Page(s) 3–7

MeSH term(s)	Humans ; Codes of Ethics ; Ethics, Professional
Language	English
Publishing date	2022-10-13
Publishing country	England
Document type	Journal Article
ZDB-ID	1205156-1
ISSN	1527-974X ; 1067-5027
ISSN (online)	1527-974X
ISSN	1067-5027
DOI	10.1093/jamia/ocac192
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Article ; Online: Patient safety in genomic medicine: an exploratory study.

Korngiebel, Diane M / Fullerton, Stephanie M / Burke, Wylie

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

2016 Volume 18, Issue 11, Page(s) 1136–1142

Abstract: Purpose: Concerns about patient safety and the potential for medical error are largely unexplored for genetic testing, despite the expansion of test use. In this preliminary qualitative study, we sought the views of genetics professionals about error ... ...

Abstract	Purpose: Concerns about patient safety and the potential for medical error are largely unexplored for genetic testing, despite the expansion of test use. In this preliminary qualitative study, we sought the views of genetics professionals about error and patient safety concerns in genomic medicine and factors that might mitigate them. Methods: Twelve semistructured interviews with experienced genetics professionals were conducted. Transcripts were analyzed using selective coding for issues related to error definition, mitigation, and communication. Additional thematic analysis captured themes across content categories. Results: Key informants suggested that the potential for adverse events exists in all phases of genetic testing, from ordering to analysis, interpretation, and follow-up. A perceived contributor was lack of physician knowledge about genetics, resulting in errors in test ordering and interpretation. The limitations and uncertainty inherent to rapidly evolving technology were also seen as contributing factors. Strategies to prevent errors included physician education, availability of genetic experts for consultation, and enhanced communication such as improved test reports and electronic decision support. Conclusion: Genetic testing poses concerns for patient safety due to errors and the limitations of current tests. As genomic tests are integrated into medical care, anticipating and addressing patient safety concerns identified by these key informants will be crucial.Genet Med 18 11, 1136-1142.
MeSH term(s)	Adult ; Attitude of Health Personnel ; Female ; Genetic Testing/ethics ; Genetic Testing/standards ; Genomics ; Humans ; Male ; Medical Errors ; Patient Safety/standards ; Precision Medicine ; Qualitative Research ; Uncertainty
Language	English
Publishing date	2016-03-24
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/gim.2016.16
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Article ; Online: Practice Implications of Expanded Genetic Testing in Oncology.

Korngiebel, Diane M / Zech, Jennifer M / Chappelle, Amelia / Burke, Wylie / Carline, Jan D / Gallagher, Thomas H / Fullerton, Stephanie M

Cancer investigation

2019 Volume 37, Issue 1, Page(s) 39–45

Abstract: Genetic test use in oncology is growing, yet providers' experiences with evolving testing norms and their implications for patient care remain under-explored. In interviews with oncologists and cancer genetics professionals, 22 key informants described ... ...

Abstract	Genetic test use in oncology is growing, yet providers' experiences with evolving testing norms and their implications for patient care remain under-explored. In interviews with oncologists and cancer genetics professionals, 22 key informants described the increasing importance of germline results for therapeutic decision-making, preference for ordering tests directly rather than referring, and rapid adoption of cancer gene panels for testing. Implications for informed consent, result interpretation, and patient management were identified. These results suggest concerns raised by the transition of genetic test delivery from cancer genetics professionals to oncologists that must be addressed in practice guidelines and provider training.
MeSH term(s)	Clinical Decision-Making ; Female ; Genetic Counseling ; Genetic Testing/methods ; Germ-Line Mutation ; Humans ; Male ; Medical Oncology ; Neoplasms/genetics ; Practice Guidelines as Topic ; Qualitative Research
Language	English
Publishing date	2019-01-24
Publishing country	England
Document type	Journal Article
ZDB-ID	604942-4
ISSN	1532-4192 ; 0735-7907
ISSN (online)	1532-4192
ISSN	0735-7907
DOI	10.1080/07357907.2018.1564926
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