Publications by authors named "Kelly E Ormond"

76 Publications

"I wish that there was more info": characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants.

Fam Cancer 2021 Apr 15. Epub 2021 Apr 15.

Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.

Little is known about what uncertainties patients experience after being identified to carry a pathogenic variant in a moderate-risk cancer gene as a result of undergoing multigene panel testing for cancer susceptibility. Data regarding cancer risk estimates and effectiveness of risk management strategies for these variants continues to evolve, which has the potential to evoke uncertainty. Acknowledging uncertainty during pre- and post-test discussions is imperative to helping individuals to adapt to their results. A better understanding of this population's experience of uncertainty is needed to facilitate such discussions and is the aim of the current study. Semi-structured interviews (30-60 min in length), informed by Han and colleagues' taxonomy of uncertainty in clinical genomic sequencing, were conducted to assess motivations to pursue genetic testing, areas of perceived uncertainty, and strategies for managing uncertainty among 20 carriers of pathogenic variants in two moderate-risk genes, ATM and CHEK2. We found that participants pursue genetic testing with the expectation that results will clarify cancer risks and approaches to management. Participants experience uncertainties aligning with Han's taxonomy relating to the ambiguity of specific cancer risk estimates and effectiveness of certain risk management strategies. These uncertainties influenced decisions around the uptake of risk management strategies, which were additionally impacted by clinicians' uncertainty towards such strategies. Participants employ a variety of uncertainty management approaches to cope with their anxieties. Clinicians may wish to use these findings to facilitate patient adaptation to the implications of multigene panel testing for cancer susceptibility during both pre- and post-test counseling sessions.
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http://dx.doi.org/10.1007/s10689-021-00251-3DOI Listing
April 2021

Public willingness to participate in personalized health research and biobanking: A large-scale Swiss survey.

PLoS One 2021 1;16(4):e0249141. Epub 2021 Apr 1.

Health Ethics and Policy Lab, Department of Health Sciences and Technology, ETH Zurich, Zurich, Switzerland.

This paper reports survey findings on the Swiss public's willingness, attitudes, and concerns regarding personalized health research participation by providing health information and biological material. The survey reached a sample of 15,106 Swiss residents, from which we received 5,156 responses (34.1% response rate). The majority of respondents were aware of research using human biological samples (71.0%) and held a positive opinion towards this type of research (62.4%). Of all respondents, 53.6% indicated that they would be willing to participate in a personalized health research project. Willingness to participate was higher in younger, higher educated, non-religious respondents with a background in the health sector. Respondents were more willing to provide 'traditional' types of health data, such as health questionnaires, blood or biological samples, as opposed to social media or app-related data. All respondents valued the return of individual research results, including risk for diseases for which no treatment is available. Our findings highlight that alongside general positive attitudes towards personalized health research using data and samples, respondents have concerns about data privacy and re-use. Concerns included potential discrimination, confidentiality breaches, and misuse of data for commercial or marketing purposes. The findings of this large-scale survey can inform Swiss research institutions and assist policymakers with adjusting practices and developing policies to better meet the needs and preferences of the public. Efforts in this direction could focus on research initiatives engaging in transparent communication, education, and engagement activities, to increase public understanding and insight into data sharing activities, and ultimately strengthen personalized health research efforts.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0249141PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016315PMC
April 2021

Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals.

Prenat Diagn 2021 Mar 16. Epub 2021 Mar 16.

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

Objectives: To conduct qualitative interviews with healthcare providers working in different countries to understand their experiences of dealing with uncertain results from prenatal chromosome microarray analysis (CMA) and exome sequencing (ES).

Methods: Semi-structured interviews with 31 healthcare providers who report or return prenatal CMA and/or ES results (clinicians, genetic counsellors and clinical scientists) in six countries with differing healthcare systems; Australia (4), Denmark (5), Netherlands (6), Singapore (4), Sweden (6) and United Kingdom (6). The topic guide explored the main sources of uncertainty and their management.

Results: There was variation in reporting practices both between and across countries for variants of uncertain significance, however, there was broad agreement on reporting practices for incidental findings. There was also variation in who decides what results are reported (clinical scientists or clinicians). Technical limitations and lack of knowledge (to classify variants and of prenatal phenotypes) were significant challenges, as were turnaround times and lack of guidelines.

Conclusion: Health professionals around the globe are dealing with similar sources of uncertainty, but managing them in different ways, Continued dialogue with international colleagues on ways of managing uncertain results is important to compare and contrast the benefits and limitations of the different approaches.
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http://dx.doi.org/10.1002/pd.5932DOI Listing
March 2021

Improving reporting standards for polygenic scores in risk prediction studies.

Nature 2021 Mar 10;591(7849):211-219. Epub 2021 Mar 10.

Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

Polygenic risk scores (PRSs), which often aggregate results from genome-wide association studies, can bridge the gap between initial discovery efforts and clinical applications for the estimation of disease risk using genetics. However, there is notable heterogeneity in the application and reporting of these risk scores, which hinders the translation of PRSs into clinical care. Here, in a collaboration between the Clinical Genome Resource (ClinGen) Complex Disease Working Group and the Polygenic Score (PGS) Catalog, we present the Polygenic Risk Score Reporting Standards (PRS-RS), in which we update the Genetic Risk Prediction Studies (GRIPS) Statement to reflect the present state of the field. Drawing on the input of experts in epidemiology, statistics, disease-specific applications, implementation and policy, this comprehensive reporting framework defines the minimal information that is needed to interpret and evaluate PRSs, especially with respect to downstream clinical applications. Items span detailed descriptions of study populations, statistical methods for the development and validation of PRSs and considerations for the potential limitations of these scores. In addition, we emphasize the need for data availability and transparency, and we encourage researchers to deposit and share PRSs through the PGS Catalog to facilitate reproducibility and comparative benchmarking. By providing these criteria in a structured format that builds on existing standards and ontologies, the use of this framework in publishing PRSs will facilitate translation into clinical care and progress towards defining best practice.
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http://dx.doi.org/10.1038/s41586-021-03243-6DOI Listing
March 2021

Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han's taxonomy of uncertainty.

J Genet Couns 2021 Feb 7;30(1):198-210. Epub 2020 Jul 7.

North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

For a number of prospective parents, uncertainty during pregnancy starts when an anomaly is found during a routine fetal anomaly scan. This may be followed by numerous tests to determine the etiology and nature of the anomaly. In this study, we aimed to understand how prospective parents perceive and manage uncertainty after being confronted with a structural anomaly during their routine ultrasound. Han's taxonomy of uncertainty was used as a framework to identify and understand the different types of uncertainty experienced. Interviews were held in the UK (n = 8 women and n = 1 male partner) and in the Netherlands (n = 7 women) with participants who had experienced uncertainty in their pregnancy after a fetal scan. Data were analyzed using thematic analysis, and the uncertainties experienced by parents were mapped against the dimensions of the Han taxonomy (sources, issues, and locus). Participants' experience of uncertainty was relevant to all dimensions and subcategories of the Han taxonomy, showing its applicability in the prenatal setting. Sources of uncertainty included receiving probabilistic or ambiguous information about the anomaly, or information that was complex and challenging to understand. Issues of uncertainty included were those that were scientific-such as a probable diagnosis with no further information, personal-such as the emotional impact of uncertainty, and practical-such as limited information about medical procedures and practical aspects of care. Additionally, participants described what helped them to manage uncertainty. This included active coping strategies such as searching for information on the Internet, external coping resources such as seeking social support, and internal coping resources such as using positivity and hope. Several recommendations for the healthcare professional to minimize uncertainty and help the patient deal with uncertainty have been proposed based on these findings.
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http://dx.doi.org/10.1002/jgc4.1311DOI Listing
February 2021

Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.

Am J Hum Genet 2020 07 6;107(1):72-82. Epub 2020 Jun 6.

Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Genetics, Stanford University, Stanford, CA 94305, USA.

Genetics researchers and clinical professionals rely on diversity measures such as race, ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of applications in research and precision medicine. However, there are no comprehensive, widely accepted standards or guidelines for collecting and using such data in clinical genetics practice. Two NIH-funded research consortia, the Clinical Genome Resource (ClinGen) and Clinical Sequencing Evidence-generating Research (CSER), have partnered to address this issue and report how REA are currently collected, conceptualized, and used. Surveying clinical genetics professionals and researchers (n = 448), we found heterogeneity in the way REA are perceived, defined, and measured, with variation in the perceived importance of REA in both clinical and research settings. The majority of respondents (>55%) felt that REA are at least somewhat important for clinical variant interpretation, ordering genetic tests, and communicating results to patients. However, there was no consensus on the relevance of REA, including how each of these measures should be used in different scenarios and what information they can convey in the context of human genetics. A lack of common definitions and applications of REA across the precision medicine pipeline may contribute to inconsistencies in data collection, missing or inaccurate classifications, and misleading or inconclusive results. Thus, our findings support the need for standardization and harmonization of REA data collection and use in clinical genetics and precision health research.
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http://dx.doi.org/10.1016/j.ajhg.2020.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332657PMC
July 2020

Perspectives of Sickle Cell Disease Stakeholders on Heritable Genome Editing.

CRISPR J 2019 12 19;2(6):441-449. Epub 2019 Nov 19.

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; University of Pennsylvania, Philadelphia, Pennsylvania.

Advances in CRISPR technology and the announcement of the first gene-edited babies have sparked a global dialogue about the future of heritable genome editing (HGE). There has been an international call for public input to inform a substantive debate about benefits and risks of HGE. This study investigates the views of the sickle cell disease (SCD) community. We utilized a mixed-methods approach to examine SCD stakeholders' views in the United States. We found SCD stakeholders hold a nuanced view of HGE. Assuming the technology is shown to be safe and effective, they are just as supportive of HGE as genetics professionals, but more supportive than the general public. However, they are also concerned about the potential implications of HGE, despite this support. As discourse surrounding HGE advances, it is crucial to engage disease communities and other key stakeholders whose lives could be altered by these interventions.
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http://dx.doi.org/10.1089/crispr.2019.0034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6919256PMC
December 2019

Attitudes of Members of Genetics Professional Societies Toward Human Gene Editing.

CRISPR J 2019 10;2(5):331-339

Department of Genetics, Stanford University School of Medicine, Stanford, California.

Gene-editing technologies have improved in ease, efficiency, and precision. Although discussions are occurring around acceptable uses of human gene editing, limited data exist on the views of genetics-trained individuals. In 2017, we distributed an anonymous online survey to assess the attitudes of members of genetics professional societies toward gene editing ( = 500). Virtually all respondents were supportive of somatic editing in basic-science (99.2%) and clinical (87.4%) research on nonreproductive human cells. Only 57.2% were supportive of germline-editing basic-science research; 31.9% supported the transfer of viable embryos to humans for clinical research. While most favored future therapeutic uses of somatic (96.6%) and germline (77.8%) editing, there was little support for enhancement in somatic (13.0%) or germline (8.6%) cells. This study describes attitudes toward gene editing from genetics professionals worldwide and contributes to ongoing discourse and policy guidance in this domain.
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http://dx.doi.org/10.1089/crispr.2019.0020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6791481PMC
October 2019

Attitudes Toward Hypothetical Uses of Gene-Editing Technologies in Parents of People with Autosomal Aneuploidies.

CRISPR J 2019 10;2(5):324-330

Department of Genetics, Stanford University School of Medicine, Stanford, California.

Researchers are exploring the use of gene-editing technologies to prevent and/or treat genetic conditions in humans. Stakeholder views, including those of patient and family populations, are important in the ongoing bioethical discussion. We conducted 27 semi-structured interviews with parents of people with trisomy 21 (T21;  = 10), trisomy 18 (T18;  = 8), and trisomy 13 (T13;  = 9)-conditions not previously studied in regard to attitudes toward hypothetical gene editing. While many discussions focus on the morality of gene editing, parents in our study focused on quality of life and concerns about changing their children's identity. All participants prioritized ameliorating life-threatening health issues when those were present; many also emphasized increasing their children's communication and cognitive ability. These results suggest that patient populations with the lived experience of genetic conditions have unique concerns that may differ from broader discourse.
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http://dx.doi.org/10.1089/crispr.2019.0021DOI Listing
October 2019

Informed Consent in the Genomics Era.

Cold Spring Harb Perspect Med 2020 08 3;10(8). Epub 2020 Aug 3.

Stanford Center for Biomedical Ethics, Stanford, California 94305, USA.

Informed consent, the process of gathering autonomous authorization for a medical intervention or medical research participation, is a fundamental component of medical practice. Medical informed consent assumes decision-making capacity, voluntariness, comprehension, and adequate information. The increasing use of genetic testing, particularly genomic sequencing, in clinical and research settings has presented many new challenges for clinicians and researchers when obtaining informed consent. Many of these challenges revolve around the need for patient comprehension of sufficient information. Genomic sequencing is complex-all of the possible results are too numerous to explain, and many of the risks and benefits remain unknown. Thus, historical standards of consent are difficult to apply. Alternative models of consent have been proposed to increase patient understanding, and several have empirically demonstrated effectiveness. However, there is still a striking lack of consensus in the genetics community about what constitutes informed consent in the context of genomic sequencing. Multiple approaches are needed to address this challenge, including consensus building around standards, targeted use of genetic counselors in nongenetics clinics in which genomic testing is ordered, and the development and testing of alternative models for obtaining informed consent.
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http://dx.doi.org/10.1101/cshperspect.a036582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397836PMC
August 2020

The clinical application of gene editing: ethical and social issues.

Per Med 2019 07 23;16(4):337-350. Epub 2019 Jul 23.

Biomedical Ethics Research Program & Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.

Gene-editing techniques have progressed rapidly in the past 5 years. There are already ongoing human somatic gene-editing clinical trials for multiple diseases. And there has been one purported scenario of human germline gene editing in late 2018. In this paper, we will review the current state of the technology, discuss the ethical and social issues that surround the various forms of gene editing, as well as review emerging stakeholder data from professionals, the 'general public' and individuals and families dealing with genetic diseases potentially treatable by gene editing.
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http://dx.doi.org/10.2217/pme-2018-0155DOI Listing
July 2019

Attitudes of people with inherited retinal conditions toward gene editing technology.

Mol Genet Genomic Med 2019 07 12;7(7):e00803. Epub 2019 Jun 12.

Department of Genetics, Stanford University School of Medicine, Stanford, CA.

Background: The views of people with genetic conditions are crucial to include in public dialogue around developing gene editing technologies. This qualitative study sought to characterize the attitudes of people with inherited retinal conditions (retinitis pigmentosa [RP] and Leber congenital amaurosis [LCA]) toward gene editing.

Methods: Individuals with RP (N = 9) and LCA (N = 8) participated in semi-structured qualitative interviews about their experience with and attitudes toward blindness, and their views about gene editing technology for somatic, germline, and enhancement applications.

Results: Participants saw potential benefits from gene editing in general, but views about its use for retinal conditions varied and were influenced by personal perspectives on blindness. Those who felt more negatively toward blindness, particularly those with later onset blindness, were more supportive of gene editing for retinal conditions. Concerns about both germline and somatic editing included: the importance of informed consent; impacts of gene editing on social attitudes and barriers affecting blind people; and worries about "eliminating" blindness or other traits.

Conclusion: People with RP and LCA have diverse attitudes toward gene editing technology informed by their own lived experience with disability, and many have concerns about how the ways in which it is discussed and implemented might affect them.
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http://dx.doi.org/10.1002/mgg3.803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625087PMC
July 2019

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.

Am J Hum Genet 2019 04;104(4):578-595

Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Division of General Internal Medicine, Department of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.

The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.
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http://dx.doi.org/10.1016/j.ajhg.2019.02.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451731PMC
April 2019

A genetic counseling needs assessment of Mexico.

Mol Genet Genomic Med 2019 05 1;7(5):e668. Epub 2019 Apr 1.

Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, California.

Background: While genetic counseling has expanded globally, Mexico has not adopted it as a separate profession. Given the rapid expansion of genetic and genomic services, understanding the current genetic counseling landscape in Mexico is crucial to improving healthcare outcomes.

Methods: Our needs assessment strategy has two components. First, we gathered quantitative data about genetics education and medical geneticists' geographic distribution through an exhaustive compilation of available information across several medical schools and public databases. Second, we conducted semi-structured interviews of 19 key-informants from 10 Mexican states remotely with digital recording and transcription.

Results: Across 32 states, ~54% of enrolled medical students receive no medical genetics training, and only Mexico City averages at least one medical geneticist per 100,000 people. Barriers to genetic counseling services include: geographic distribution of medical geneticists, lack of access to diagnostic tools, patient health literacy and cultural beliefs, and education in medical genetics/genetic counseling. Participants reported generally positive attitudes towards a genetic counseling profession; concerns regarding a current shortage of available jobs for medical geneticists persisted.

Conclusion: To create a foundation that can support a genetic counseling profession in Mexico, the clinical significance of medical genetics must be promoted nationwide. Potential approaches include: requiring medical genetics coursework, developing community genetics services, and increasing jobs for medical geneticists.
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http://dx.doi.org/10.1002/mgg3.668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503023PMC
May 2019

What do we do now?: Responding to claims of germline gene editing in humans.

Genet Med 2019 10 27;21(10):2181-2183. Epub 2019 Mar 27.

Department of Genetics and Stanford Center for Biomedical Ethics, Stanford School of Medicine, Stanford, CA, USA.

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http://dx.doi.org/10.1038/s41436-019-0492-3DOI Listing
October 2019

Much ado about nothing: A qualitative study of the experiences of an average-risk population receiving results of exome sequencing.

J Genet Couns 2019 04 5;28(2):428-437. Epub 2019 Mar 5.

Department of Genetics, Stanford University School of Medicine, Stanford, California.

The increasing availability of exome sequencing to the general ("healthy") population raises questions about the implications of genomic testing for individuals without suspected Mendelian diseases. Little is known about this population's motivations for undergoing exome sequencing, their expectations, reactions, and perceptions of utility. In order to address these questions, we conducted in-depth semi-structured interviews with 12 participants recruited from a longitudinal multi-omics profiling study that included exome sequencing. Participants were interviewed after receiving exome results, which included Mendelian disease-associated pathogenic and likely pathogenic variants, pharmacogenetic variants, and risk assessments for multifactorial diseases such as type 2 diabetes. The primary motivation driving participation in exome sequencing was personal curiosity. While they reported feeling validation and relief, participants were frequently underwhelmed by the results and described having expected more from exome sequencing. All participants reported discussing the results with at least some family, friends, and healthcare providers. Participants' recollection of the results returned to them was sometimes incorrect or incomplete, in many cases aligning with their perceptions of their health risks when entering the study. These results underscore the need for different genetic counseling approaches for generally healthy patients undergoing exome sequencing, in particular the need to provide anticipatory guidance to moderate participants' expectations. They also provide a preview of potential challenges clinicians may face as genomic sequencing continues to scale-up in the general population despite a lack of full understanding of its impact.
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http://dx.doi.org/10.1002/jgc4.1096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456364PMC
April 2019

Challenges of infertility genetic counseling: Impact on counselors' personal and professional lives.

J Genet Couns 2019 06 1;28(3):626-640. Epub 2019 Mar 1.

Department of Genetics, Stanford University School of Medicine, Stanford, California.

Infertility genetic counselors (GCs) work with patients struggling to become pregnant who desire genetic testing of embryos and preconception genetic testing or carrier screening. Because personal and professional challenges have not been examined in this relatively new genetic counseling specialty, we investigated the difficulties infertility GCs face in their professional roles. Past and present infertility GCs in patient-facing roles were recruited through the National Society of Genetic Counselors. Purposive sampling ensured participants were diverse in clinical setting, reproductive history, and other demographics. Nineteen participants completed a semi-structured interview, at which time data saturation occurred. Thematic analysis revealed infertility GCs consider their patients more emotionally stressed than patients in other specialties. Infertility GCs relate easily to patients, build long-term patient relationships, and feel invested in the reproductive successes of patients. Participants reported heightened concern for their own fertility, leading to high personal uptake of preconception genetic and fertility tests. Participants described discomfort when counseling while visibly pregnant and reluctance to disclose their own reproductive histories. Further research is needed on the complex interactions of GCs' personal and professional lives. Peer support groups and professional dialogue about the personal effects of the role may be beneficial for infertility GCs.
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http://dx.doi.org/10.1002/jgc4.1106DOI Listing
June 2019

Secondary findings: How did we get here, and where are we going?

J Genet Couns 2019 04 1;28(2):326-333. Epub 2019 Mar 1.

Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts.

The American College of Medical Genetics and Genomics (ACMG) recommendations for reporting of incidental (now "secondary") findings in clinical exome and genome sequencing (Green et al., Genet Med 15:565, 2013) is an often cited and sometimes misapplied professional guideline. To best approach the current state of secondary findings (SFs) in genomic medicine, and consider their impact, it is helpful to understand how and why the guideline was created. Of particular importance is the context - the state of the science and clinical practice during 2011-2012 when the guideline were initially developed. This paper will review the setting before the guidelines were published, and empiric research and discussion that has occurred since.
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http://dx.doi.org/10.1002/jgc4.1098DOI Listing
April 2019

Genetic counselors' perceptions of uncertainty in pretest counseling for genomic sequencing: A qualitative study.

J Genet Couns 2019 04 11;28(2):292-303. Epub 2019 Feb 11.

Department of Genetics, Stanford University School of Medicine, Stanford, California.

Increased usage of exome and genome sequencing has made uncertainties associated with genomic sequencing methods more prevalent within medicine. Current research focuses on patients' perceptions of uncertainty related to genomic sequencing, but there is limited knowledge of the perspectives of providers. The aim of this study was to explore how professionals in genomics perceive uncertainties involved in genomic sequencing, and if or how this impacts their approach to pretest counseling. We performed 20 semi-structured interviews with genetic counselors in the United States and Canada who provide pretest genetic counseling for genomic sequencing. Interviews explored participating genetic counselors' views of uncertainty regarding genomic sequencing, how they classify it, how it manifests, and how they manage it during pretest counseling. Thematic analysis showed that genetic counselors acknowledge concepts of uncertainty that map to existing frameworks of uncertainty for genomic sequencing. Genetic counselors also perceived incongruencies between patients' and providers' expectations of genomic sequencing, which prompted them to modify patients' perceptions of uncertainty related to genomic sequencing. All genetic counselors agreed that guidance and strategies for genomic sequencing pretest counseling would be helpful, particularly for novice genetic counselors and non-genetics providers. These findings highlight the need and potential for conceptual models of uncertainty and uncertainty management strategies to facilitate patient-centered pretest counseling for genomic sequencing.
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http://dx.doi.org/10.1002/jgc4.1076DOI Listing
April 2019

Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.

J Genet Couns 2019 04 1;28(2):466-476. Epub 2019 Feb 1.

Department of Genetics, Stanford University School of Medicine, Stanford, California.

With the wide adoption of next-generation sequencing (NGS)-based genetic tests, genetic counselors require increased familiarity with NGS technology, variant interpretation concepts, and variant assessment tools. The use of exome and genome sequencing in clinical care has expanded the reach and diversity of genetic testing. Regardless of the setting where genetic counselors are performing variant interpretation or reporting, most of them have learned these skills from colleagues, while on the job. Though traditional, lecture-based learning around these topics is important, there has been growing need for the inclusion of case-based, experiential training of genomics and variant interpretation for genetic counseling students, with the goal of creating a strong foundation in variant interpretation for new genetic counselors, regardless of what area of practice they enter. To address this need, we established a genomics and variant interpretation rotation for Stanford's genetic counseling training program. In response to changes in the genomics landscape, this has now evolved into three unique rotation experiences, each focused on variant interpretation in the context of various genomic settings, including clinical laboratory, research laboratory, and healthy genomic analysis studies. Here, we describe the goals and learning objectives that we have developed for these variant interpretation rotations, and illustrate how these concepts are applied in practice.
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http://dx.doi.org/10.1002/jgc4.1094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456376PMC
April 2019

Assessing genetic counselors' experiences with physician aid-in-dying and practice implications.

J Genet Couns 2019 02 28;28(1):164-173. Epub 2019 Jan 28.

Stanford Center for Biomedical Ethics, Stanford University, Stanford, California.

Physician aid-in-dying (PAD) is now legalized in more than half a dozen states across the United States yet remains controversial among health care providers and the general public. Previous studies have described physicians' and nurses' experiences with and attitudes about PAD; however, there is no data about PAD in the context of genetic counseling. This study explores genetic counselors' experiences, understanding, training, and perspectives about PAD. Fifteen participants were recruited to complete semistructured telephone interviews. Five participants had received patient inquiries about PAD. Most participants (n = 10) did not feel prepared to discuss PAD with patients and felt that they did not have adequate knowledge to answer patient questions about the practice. Participants described how the unique training, skills, and experiences of genetic counselors could be beneficial for discussing PAD with patients, in comparison to other providers. All participants supported training for genetic counselors about PAD, with many suggesting integration with education about palliative care and end-of-life planning. This is the first study to investigate PAD in the context of genetic counseling. Genetic counselors have had patients ask questions about PAD, want education and access to resources about PAD, and believe they can provide important support and guidance to patients considering PAD in some genetic counseling contexts.
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http://dx.doi.org/10.1002/jgc4.1047DOI Listing
February 2019

The Global State of the Genetic Counseling Profession.

Eur J Hum Genet 2019 02 5;27(2):183-197. Epub 2018 Oct 5.

Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession. We estimate that in 2018 there are nearly 7000 genetic counselors with the profession established or developing in no less than 28 countries.
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http://dx.doi.org/10.1038/s41431-018-0252-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336871PMC
February 2019

Genetic Counselors' and Genetic Counseling Students' Implicit and Explicit Attitudes toward Homosexuality.

J Genet Couns 2019 02 16;28(1):91-101. Epub 2019 Jan 16.

Division of Nephrology, Department of Medicine, University of California, San Francisco, San Francisco, CA, USA.

Members of the lesbian, gay, and bisexual (LGB) community experience significant health disparities. Widespread preferences for heterosexual over homosexual people among healthcare providers are believed to contribute to this inequity, making recognition (and ultimately reduction) of healthcare providers' sexual prejudices of import. The present study sought to characterize North American genetic counselors' and genetic counseling students' implicit and explicit attitudes toward homosexuality. During January 2017, 575 participants completed a Web-based survey and Sexuality Implicit Association Test (SIAT). A majority of participants (60.2%) harbored implicit preferences for heterosexual over homosexual people. Mean implicit attitude score (0.24) indicated a slight automatic preference for heterosexual over homosexual people, while mean explicit attitude score (0.033) indicated no preference for either group. Although participants' implicit and explicit attitudes were positively correlated (p < 0.001), there was greater implicit bias for heterosexual over homosexual people than suggested by explicit attitude scores (p < 0.001). Implicit attitudes differed across self-reported sexual orientation (p < 0.001), but not across gender, race, or genetic counseling specialty. Education has been demonstrated to be moderately effective at reducing sexual prejudices, and almost all participants (95.8%) indicated that they would support the implementation of genetic counseling curricula addressing lesbian, gay, bisexual, and transgender (LGBT) issues. The study's combined findings suggest that North American genetic counselors and genetic counseling students support, and may benefit from, the implementation of genetic counseling curricula addressing LGBT issues.
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http://dx.doi.org/10.1007/s10897-018-0295-8DOI Listing
February 2019

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background.

Genet Med 2019 03 6;21(3):727-735. Epub 2018 Jul 6.

Geisinger, 100 North Academy Avenue, Danville, Pennsylvania, 17822, USA.

Purpose: In response to genetic testing being widely ordered by nongenetics clinicians, the Consent and Disclosure Recommendations (CADRe) Workgroup of the Clinical Genome Resource (ClinGen; clinicalgenome.org ) developed guidance to facilitate communication about genetic testing and efficiently improve the patient experience. Considering ethical, legal, and social implications, and medical factors, CADRe developed and pilot tested two rubrics addressing consent for genetic testing and results disclosure. The CADRe rubrics allow for adjusting the communication approach based on circumstances specific to patients and ordering clinicians.

Methods: We present results of a formative survey of 66 genetics clinicians to assess the consent rubric for nine genes (MLH1, CDH1, TP53, GJB2, OTC; DMD, HTT, and CYP2C9/VKORC1). We also conducted interviews and focus groups with family and patient stakeholders (N = 18), nongenetics specialists (N = 27), and genetics clinicians (N = 32) on both rubrics.

Results: Formative evaluation of the CADRe rubrics suggests key factors on which to make decisions about consent and disclosure discussions for a "typical" patient.

Conclusion: We propose that the CADRe rubrics include the primary issues necessary to guide communication recommendations, and are ready for pilot testing by nongenetics clinicians. Consultation with genetics clinicians can be targeted toward more complex or intensive consent and disclosure counseling.
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http://dx.doi.org/10.1038/s41436-018-0093-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320736PMC
March 2019

Genetics and ethics.

J Community Genet 2019 Jan 14;10(1):1-2. Epub 2018 Jun 14.

Medizinische Hochschule Hannover, Institut für Humangenetik, Hannover, Germany.

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http://dx.doi.org/10.1007/s12687-018-0372-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325041PMC
January 2019

"I don't want to be Henrietta Lacks": diverse patient perspectives on donating biospecimens for precision medicine research.

Genet Med 2019 01 11;21(1):107-113. Epub 2018 Jun 11.

Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, USA.

Purpose: To determine whether patients distinguish between biospecimens and electronic health records (EHRs) when considering research participation to inform research protections.

Methods: We conducted 20 focus groups with individuals who identified as African American, Hispanic, Chinese, South Asian, and non-Hispanic white on the collection of biospecimens and EHR data for research.

Results: Our study found that many participants did not distinguish between biospecimens and EHR data. However, some participants identified specific concerns about biospecimens. These included the need for special care and respect for biospecimens due to enduring connections between the body and identity; the potential for unacceptable future research, specifically the prospect of human cloning; heightened privacy risks; and the potential for unjust corporate profiteering. Among those who distinguished biospecimens from EHR data, many supported separate consent processes and would limit their own participation to EHR data.

Conclusion: Considering that the potential misuse of EHR data is as great as, if not greater than, for biospecimens, more research is needed to understand how attitudes differ between biospecimens and EHR data across diverse populations. Such research should explore mechanisms beyond consent that can address diverse values, perspectives, and misconceptions about sources of patient information to build trust in research relationships.
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http://dx.doi.org/10.1038/s41436-018-0032-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289900PMC
January 2019

Exploring the Medical and Psychosocial Concerns of Adolescents and Young Adults With Craniofacial Microsomia: A Qualitative Study.

Cleft Palate Craniofac J 2018 11 10;55(10):1430-1439. Epub 2018 Apr 10.

6 Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA, USA.

Objective: This study explores the experiences of adolescents and young adults with craniofacial microsomia, including the impact of growing up with this craniofacial condition on daily life and sense of self. The results may guide future research on optimally supporting individuals with craniofacial microsomia during this critical life phase.

Design And Setting: Participants were recruited through a craniofacial center, online patient support groups, and social media sites. Eleven individual semistructured interviews with participants between 12 and 22 years old were conducted by a single interviewer, transcribed, iteratively coded, and thematically analyzed.

Results: Five themes were evident in the data: (1) impact on personal growth and character development, (2) negative psychosocial impact, (3) deciding to hide or reveal the condition, (4) desire to make personal surgical decisions, and (5) struggles with hearing loss.

Conclusions: We identified both medical and psychosocial concerns prevalent among adolescents with craniofacial microsomia. Although adolescents with craniofacial microsomia exhibit considerable resilience, the challenges they face impact their sense of self and should be addressed through psychosocial support and counseling. Further research should investigate the potential benefit of the wider use of hearing aids, as well as the involvement of patients in decision-making about reconstructive ear surgery.
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http://dx.doi.org/10.1177/1055665618768542DOI Listing
November 2018

Beyond Consent: Building Trusting Relationships With Diverse Populations in Precision Medicine Research.

Am J Bioeth 2018 Apr;18(4):3-20

b Stanford University.

With the growth of precision medicine research on health data and biospecimens, research institutions will need to build and maintain long-term, trusting relationships with patient-participants. While trust is important for all research relationships, the longitudinal nature of precision medicine research raises particular challenges for facilitating trust when the specifics of future studies are unknown. Based on focus groups with racially and ethnically diverse patients, we describe several factors that influence patient trust and potential institutional approaches to building trustworthiness. Drawing on these findings, we suggest several considerations for research institutions seeking to cultivate long-term, trusting relationships with patients: (1) Address the role of history and experience on trust, (2) engage concerns about potential group harm, (3) address cultural values and communication barriers, and (4) integrate patient values and expectations into oversight and governance structures.
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http://dx.doi.org/10.1080/15265161.2018.1431322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6173191PMC
April 2018

Genetic counseling globally: Where are we now?

Am J Med Genet C Semin Med Genet 2018 03 25;178(1):98-107. Epub 2018 Mar 25.

Society and Ethics Research, Connecting Science, Wellcome Genome Campus, Cambridge, United Kingdom.

The genetic counseling profession is continuing to develop globally, with countries in various stages of development. In some, the profession has been in existence for decades and is increasingly recognized as an important provider of allied health, while in others it is just beginning. In this article, we describe the current global landscape of the genetic counseling specialty field's professional development. Using examples of the United States, United Kingdom, Canada, Australia, South Africa, and various countries in Asia, we highlight the following: (a) status of genetic counseling training programs, (b) availability of credentialing through government and professional bodies (certification, registration, and licensure), and potential for international reciprocity, (c) scope of clinical practice, and (d) health-care system disparities and cultural differences impacting on practice. The successful global implementation of precision medicine will require both an increased awareness of the importance of the profession of "genetic counselor" and flexibility in how genetic counselors are incorporated into each country's health-care market. In turn, this will require more collaboration within and across nations, along with continuing engagement of existing genetic counseling professional societies.
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http://dx.doi.org/10.1002/ajmg.c.31607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947883PMC
March 2018