Effects of Implicit Racial Bias and Standardized Patient Race on Genetic Counseling Students' Patient-Centered Communication.

Clinician racial bias has been associated with less patient-centered communication, but little is known about how it affects trainees' communication. We investigated genetic counseling students' communication during sessions with Black or White standardized patients (SPs) and the extent to which communication was associated with SP race or student scores on the Race Implicit Association Test (IAT). Sixty students conducted a baseline SP session and up to two follow-up sessions.

Where is the "counseling" in prenatal genetic counseling?

Objective: Prenatal genetic testing is routinely offered to all pregnant patients in the United States and is variably offered to certain pregnant populations globally [1]. To achieve value-based, informed decision-making, we argue for a shift away from the predominant "teaching" model of genetic counseling practice that prioritizes information and counselor dominance, toward a "counseling" model of practice that prioritizes the patient's narrative, values and beliefs.

Discussion: Since prenatal testing began, genetic counseling has aimed to facilitate informed decision-making.

Evaluation of mailed results versus telephone disclosure of normal cancer genetic test results in a low-risk underserved population.

Scalable models for result disclosure are needed to ensure large-scale access to genomics services. Research evaluating alternatives to genetic counseling suggests effectiveness; however, it is unknown whether these findings are generalizable across populations. We assessed whether a letter is non-inferior to telephone genetic counseling to inform participants with no personal or family history of cancer of their normal results.

The Parent PrU: A measure to assess personal utility of pediatric genomic results.

Purpose: We aimed to adapt and validate an existing patient-reported outcome measure, the personal-utility (PrU) scale, for use in the pediatric genomic context.

Methods: We adapted the adult version of the PrU and obtained feedback from 6 parents whose child had undergone sequencing. The resulting measure, the Parent PrU, was administered to parents of children in 4 pediatric cohorts of the Clinical Sequencing Evidence-Generating Research consortium after they received their children's genomic results.

Motivations to learn genomic information are not exceptional: Lessons from behavioral science.

Whether to undergo genome sequencing in a clinical or research context is generally a voluntary choice. Individuals are often motivated to learn genomic information even when clinical utility-the possibility that the test could inform medical recommendations or health outcomes-is low or absent. Motivations to seek one's genomic information can be cognitive, affective, social, or mixed (e.

Misunderstood terms and concepts identified through user testing of educational materials for fragile X premutation: "Not weak or fragile?".

Complicated genetic mechanisms and unpredictable health risks associated with the FMR1 premutation can result in challenges for patient education when the diagnosis is made in a newborn. From October 15, 2018, to December 10, 2021, North Carolina parents could obtain FMR1 premutation results about their newborns through a voluntary expanded newborn screening research study. The study provided confirmatory testing, parental testing, and genetic counseling.

Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening.

Individuals with severe combined immunodeficiency (SCID), a group of rare, genetic conditions, are at risk for life-threatening illnesses unless diagnosed and treated early. Even after early identification through newborn screening, parents of children with SCID embark on a complex journey marked by a variety of informational and emotional support needs. This paper explored the types of uncertainties experienced by parents of a child with SCID diagnosed through newborn screening.

Use of a web-based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes.

Early Check is a voluntary, large-scale expanded newborn screening study in North Carolina that uses a self-directed web-based portal for return of normal individual research results (IRR). Little is known about participant perspectives in using web-based portals to receive IRR. This study explored user attitudes and behaviors within the Early Check portal using three methods: (1) a feedback survey available to the consenting parent of participating infants (typically mothers), (2) semi-structured interviews conducted with a subset of parents, and (3) Google Analytics.

The PrU: Development and validation of a measure to assess personal utility of genomic results.

Purpose: People report experiencing value from learning genomic results even in the absence of clinically actionable information. Such personal utility has emerged as a key concept in genomic medicine. The lack of a validated patient-reported outcome measure of personal utility has impeded the ability to assess this concept among those receiving genomic results and evaluate the patient-perceived value of genomics.

Future-oriented Emotions and Decisions to Receive Genomic Testing Results Among U.S. Adults of African Ancestry.

Background: Future-oriented emotions are associated with consequential health decision-making, including genomic testing decisions. However, little is known about the relative role of various future-oriented emotions in such decisions. Moreover, most research on predictors of decision making regarding genomic testing is conducted with white participants.

Parental coping with uncertainties along the severe combined immunodeficiency journey.

Background: Severe combined immunodeficiency (SCID) is a group of rare genetic disorders that cause disruption in immune system functioning. Parents of children with SCID experience many uncertainties related to their child's diagnosis, treatment, recovery, and quality of life. To fully understand parents' experiences throughout their SCID journey, it is important to explore the stressors generated by such uncertainties and how parents cope with these stressors.

An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial.

Purpose: Effective approaches to communicate genomic information are needed to ensure equitable care. In a randomized controlled superiority trial, we tested a novel practice model that aims to make genetic counseling inclusive, by making the communication accessible, relational, and actionable (ARIA).

Methods: In total, 696 English- and Spanish-speaking patients aged 18 to 49 years, enriched for individuals from historically underserved backgrounds, were randomized in 1:1 ratio to ARIA or usual care.

Return of comprehensive tumour genomic profiling results to advanced cancer patients: a qualitative study.

Purpose: The introduction of comprehensive tumour genomic profiling (CGP) into clinical oncology allows the identification of molecular therapeutic targets. However, the potential complexity of genomic results and their implications may cause confusion and distress for patients undergoing CGP. We investigated the experience of advanced cancer patients receiving CGP results in a research setting.

Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study.

A challenge in implementing population-based DNA screening is providing sufficient information, that is, understandable and acceptable, and that supports informed decision making. Early Check is an expanded newborn screening study offered to mothers/guardians whose infants have standard newborn screening in North Carolina. We developed electronic education and consent to meet the objectives of feasibility, acceptability, trustworthiness, and supporting informed decisions.

Further validation of the Perceptions of Uncertainties in Genome Sequencing scale among patients with cancer undergoing tumor sequencing.

It is important to understand how individuals perceive uncertainties and the consequent impact on their psychological well-being and health behavior. The Perceptions of Uncertainties in Genome Sequencing (PUGS) scale measures clinical, affective, and evaluative uncertainties about information from sequencing. The PUGS scale has been shown to be valid and reliable among individuals receiving results about their genomes.

Psychological outcomes in advanced cancer patients after receiving genomic tumor profiling results.

Background: Comprehensive tumor genomic profiling (CGP) offers hope for personalized treatment for cancer patients when other treatment options have been exhausted. However, receipt of nonactionable or ambiguous results could be an ongoing source of distress. We investigated patterns of hope, anxiety, depression, and CGP-specific anxiety in advanced cancer patients after receiving CGP results and 2-3 months later.

ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial.

Purpose: Individuals having genomic sequencing can choose to be notified about pathogenic variants in genes unrelated to the testing indication. A decision aid can facilitate weighing one's values before making a choice about these additional results.

Methods: We conducted a randomized trial (N = 231) comparing informed values-choice congruence among adults at risk for a hereditary cancer syndrome who viewed either the Optional Results Choice Aid (ORCA) or web-based additional findings information alone.

Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium.

Introduction: Ensuring equitable access to health care is a widely agreed-upon goal in medicine, yet access to care is a multidimensional concept that is difficult to measure. Although frameworks exist to evaluate access to care generally, the concept of "access to genomic medicine" is largely unexplored and a clear framework for studying and addressing major dimensions is lacking.

Methods: Comprised of seven clinical genomic research projects, the Clinical Sequencing Evidence-Generating Research consortium (CSER) presented opportunities to examine access to genomic medicine across diverse contexts.

Psychological predictors of advanced cancer patients' preferences for return of results from comprehensive tumor genomic profiling.

This study assessed the psychological predictors of preferences for return of comprehensive tumor genomic profiling (CTGP) results in patients with advanced cancers, enrolled in the Molecular Screening and Therapeutics Program. Patients completed a questionnaire prior to undergoing CTGP. Of the 1434 who completed a questionnaire, 96% would like to receive results that can guide treatment for their cancer, and preference for receiving this type of result was associated with lower tolerance of uncertainty.

The role of future-oriented affect in engagement with genomic testing results.

Future-oriented emotions such as anticipatory affect (i.e., current affect experienced regarding a potential future outcome) and anticipated affect (i.

Cancer patient knowledge about and behavioral intentions after germline genome sequencing.

Objectives: Germline genome sequencing (GS) is becoming mainstream in cancer diagnosis and risk management. Identifying knowledge gaps and determinants of health behavior change intentions will enable effective targeting of educational and management strategies to translate genomic findings into improved cancer outcomes.

Methods: Probands diagnosed with cancer of likely genetic origin that consented to but not yet undergone GS, and their biological relatives, completed a cross-sectional questionnaire assessing GS knowledge and hypothetical intention to change behaviors.

Enrolling Children in Clinical Trials for Genetic Neurodevelopmental Conditions: Ethics, Parental Decisions, and Children's Identities.

Knowledge of genetic mechanisms contributing to neurodevelopmental conditions is advancing. This is informing development of new drugs to treat or ameliorate these conditions, through targeting underlying genetic pathways. Drugs are tested in clinical trials, necessitating parents to engage with decisions about whether to enroll their child.

Parent clinical trial priorities for fragile X syndrome: a best-worst scaling.

An expansion in the availability of clinical drug trials for genetic neurodevelopmental conditions is underway. Delineating patient priorities is key to the success of drug development and clinical trial design. There is a lack of evidence about parent decision-making in the context of clinical drug trials for genetic neurodevelopmental conditions.