Kristen Fishler Malone

Literature exploring the experiences of parents of children with rare genetic conditions on “Diagnosis Day,” the day a diagnosis is given, is limited. We created a survey to further explore these experiences. Parents of children with rare genetic conditions 18 years or younger were recruited through rare disease organizations and social media. Seven hundred and seventeen participants, representing 229 rare diseases, met the inclusion criteria. Most parents received their child's diagnosis in person. Other parents received the diagnosis by phone or telehealth. Most parents (73%) were satisfied with where the diagnosis was given. Parents experienced a range of emotions on Diagnosis Day, most commonly hopelessness, sadness, confusion, and relief. With a longer time to diagnosis, participants reported more positive emotions and fewer negative emotions ( p < 0.001). The information parents considered most important on Diagnosis Day included details about quality of life, medical management, inheritance, and connecting with other families. Nearly half of parents felt that providers could have done something different when delivering the diagnosis, including providing specific information on the diagnosis, asking parents to decide where results are given, asking about including other family members, and providing compassion and empathy. Together, these findings can be used to improve the Diagnosis Day experience for parents.

Grounded theory was first described by Glaser and Strauss (1967, The discovery of grounded theory: Strategies for qualitative research. Aldine) as the “discovery of theory from data,” and describes a group of related methodologies that share key elements of study design and data analysis. Since its inception, grounded theory has evolved into several subtypes with different philosophical underpinnings, the most common of which are post‐positivism and constructivism. In post‐positivist interpretive frameworks, research is guided by a series of rigorous and logically related steps to identify a single objective underlying reality. In constructivist interpretive frameworks, the researcher strives to understand the meaning participants make of a phenomenon within their social and historical context, recognizing that their own position and perspectives shape their interpretation of their participants' experiences. Grounded theory studies include multiple stages of coding, concurrent collection and analysis of data, constant comparative data analysis, theoretical sampling, and memo‐writing to capture researcher reflections and evolving theoretical ideas. The outcome of the study should be a substantive theory that is grounded in the data and describes the phenomenon being studied. Publications relevant to the genetic counseling profession have used a grounded theory approach to investigate a range of topics including patient experiences, professional issues, and genetic counseling education. This article describes the theoretical underpinnings and defining characteristics of grounded theory, provides an overview of post‐positivist and constructivist grounded theory approaches, and outlines key elements to consider when conducting and evaluating grounded theory research.

Genetic counselors (GCs) practice in critical care settings. Some GCs have full‐time inpatient roles, while most GCs who see inpatients do so as needed or on a rotating schedule in addition to seeing patients in an outpatient setting. Few studies have tracked and compared the amount of time it takes GCs to perform tasks in the inpatient and outpatient settings. Genetic counselors were invited to participate in this study via the National Society of Genetic Counselors research listserv. Participants completed an online survey asking how their role is structured and what types of support are available to them while seeing inpatients. They also performed time tracking for 16 tasks known to be associated with inpatient and/or outpatient care via RedCap. These tasks include direct patient care, care coordination, and other tasks which encapsulate a new patient encounter from beginning to end. Forty‐two inpatient encounters and 26 outpatient encounters were analyzed. The total average time spent on an inpatient consult (3 h and 38.5 min) was significantly higher than the time spent on an outpatient consult (2 h and 24.7 min; p < 0.05). Individually, genetic counselors spent significantly more time on the following tasks in an inpatient setting: direct follow‐up encounters, multidisciplinary team communication, results disclosure encounters, results disclosure documentation, traveling, and waiting. Follow‐up encounters, traveling, and waiting happen almost exclusively in inpatient settings. Short answer prompts regarding structure of GC role and available support revealed themes including lack of inpatient role structure, challenges with balancing between inpatient and outpatient tasks, and varied institutional support. These results promote further discussion about how to support GCs who see inpatients as these roles expand. Some suggestions include increased FTE/protected time and/or GCA support specific to the inpatient role.

The Accreditation Council for Genetic Counseling's Practice‐Based Competencies include research‐related skills, which are taught in master's level genetic counseling programs through didactic coursework and completion of mentored research experiences. It is known that research mentors can impact student work environments, create positive perceptions of the research process, and increase students' likelihood of future involvement in research. However, few studies have characterized the experiences of GC students in receiving research mentorship. It is crucial to understand these experiences from student perspectives to better inform stakeholders about factors that impact mentorship. Using a mixed‐methods approach, this study explored GC students' experiences receiving research mentorship and their thoughts regarding the successful qualities of research mentors. GC students (N = 165) who graduated between 2019 and 2022 responded to an online survey measuring the mentorship relationship, defined by the Advisory Working Alliance Inventory (AWAI). On average, participants scored 3.96/5 on the AWAI, where higher scores indicate stronger working alliances. When asked to describe their overall research experience in three words, 75.7% of participants used at least one negatively connotated descriptor. Thematic analysis of semi‐structured interviews obtained via purposive sampling of highest and lowest scoring participants on the AWAI (N = 14) revealed the following five themes related to successful qualities of a research mentor: (1) communication; (2) rapport building and relationship; (3) engagement and guidance; (4) expertise and connections; and (5) mentors with different roles. Of note, many of these qualities are foundational skills in genetic counseling. Thus, genetic counselors who may be strong in these areas who do not identify as “researchers” ought to consider becoming a research committee member. Additionally, education programs could consider implementing research committee member evaluations and/or student research self‐efficacy surveys to evaluate how these relationships may be shaping research experiences for students within their program.

The availability of rapid genome sequencing (rGS) for children in a critical‐care setting is increasing. This study explored the perspectives of geneticists and intensivists on optimal collaboration and division of roles when implementing rGS in neonatal and pediatric intensive care units (ICUs). We conducted an explanatory mixed methods study involving a survey embedded within an interview with 13 genetics and intensive care providers. Interviews were recorded, transcribed, and coded. Geneticists endorsed higher confidence in performing a physical exam and interpreting/communicating positive results. Intensivists endorsed highest confidence in determining whether genetic testing was appropriate, communicating negative results, and consenting. Major qualitative themes that emerged were: (1) concerns with both “genetics‐led” and “intensivist‐led” models with workflows and sustainability (2) shift the role of determining rGS eligibility to ICU medical professionals, (3) continued role of geneticists to assess phenotype, and (4) include genetic counselors (GCs) and neonatal nurse practitioners to enhance workflow and care. All geneticists supported shifting decisions regarding eligibility for rGS to the ICU team to minimize time cost for the genetics workforce. Exploring models of geneticist‐led phenotyping, intensivist‐led phenotyping for some indications, and/or inclusion of a dedicated inpatient GC may help offset the time burden of consenting and other tasks associated with rGS.

Changes in medical intervention over the last decade have improved outcomes for individuals with trisomy 18, the second most common human aneuploidy syndrome at birth. As children with trisomy 18 live longer, a shared concern of medical experts and parents is the occurrence and treatment of seizures. Previously published surveillance guidelines for this condition have not addressed seizure management. Using parent-reported data collected as part of the Tracking Rare Incidence Syndromes project, we report on the prevalence, course, and management of seizures in individuals with trisomy 18. Twenty-eight percent (52/186) of individuals diagnosed with trisomy 18 in our retrospective cohort experienced generalized, focal, or mixed seizures at some point in their lifetime. For many individuals, seizures were effectively managed by broad-spectrum anti-seizure medications. Correlation analysis showed that focal and generalized seizures were more likely to occur in individuals who had previously experienced infantile spasms or central apnea. Electroencephalogram testing should be considered as part of a standard screening approach in individuals with trisomy 18 to enable early diagnosis and treatment of seizures. An international registry that incorporates parent-reported and clinical data for patients with trisomy 18 may facilitate ongoing research and recruitment into clinical trials for seizure management.

Available evidence does not support limiting the use of rapid or ultra-rapid exome or genome sequencing in critically ill neonates to cases of predicted high diagnostic yield. Such testing is best positioned to improve neonatal care when test utilization is conceptualized within the total care of the family with a goal of rapid resolution of the diagnostic odyssey.

In 2018, the Munroe‐Meyer Institute for Genetics & Rehabilitation (MMI) at the University of Nebraska Medical Center (UNMC) in Omaha, NE created a genetic counseling clinic (GCC) to increase access to genetics services and decrease the time spent between a referral and being seen in a general genetics outpatient clinic. In the GCC, genetic counselors led patient encounters and geneticists served as advisors, rather than primary providers. We conducted a chart review of 109 patients seen in the GCC from November 1, 2018, to March 16, 2020, and obtained information regarding patient demographics, indications, and clinical recommendations as a result of the visit. Most patients seen in this clinic were female (65.1%) and aged 19 years of age or older (54.1%). The primary indications for patients in this clinic included review genetic test results (42.2%), coordination of genetic testing for a known familial variant (30.2%), and concerns for personal or family history suspicious of a genetic condition without dysmorphic features (24.8%). The average patient wait time between referral date and appointment date in the GCC was 49.8 days. The two most common clinical recommendations made by genetic counselors in the GCC were genetic testing (56.1%) and/or follow‐up with specialist (26.5%). These specialists primarily included endocrinology (n = 5), neurology (n = 4), cardiology (n = 4), ophthalmology (n = 3), and audiology (n = 3). We found that the GCC model may be appropriate for patients with (1) genetic test results requiring interpretation, (2) a known familial variant or (3) genetic testing recommended by a specialist physician. Descriptions of the indications and recommendations for patients seen in this GCC provide a framework for potential implementation of a GCC in other regions across the nation.

Rare diseases impact all socio-economic, geographic, and racial groups indiscriminately. Newborn screening (NBS) is an exemplary international public health initiative that identifies infants with rare conditions early in life to reduce morbidity and mortality. NBS theoretically promotes equity through universal access, regardless of financial ability. There is however heterogeneity in access to newborn screening and conditions that are screened throughout the world. In the United States and some other developed countries, NBS is provided to all babies, subsidized by the local or federal government. Although NBS is an equitable test, infants admitted to neonatal intensive care units (NICUs) may not receive similar benefits to healthier infants. Newborns in the NICU may receive delayed and/or multiple newborn screens due to known limitations in interpreting the results with prematurity, total parenteral nutrition, blood transfusions, infection, and life support. Thus, genomic technologies might be needed in addition to NBS for equitable care of this vulnerable population. Whole exome (WES) and genome sequencing (WGS) have been recently studied in critically ill newborns across the world and have shown promising results in shortening diagnostic odysseys and providing clinical utility. However, in certain circumstances several barriers might limit access to these tests. Here, we discuss some of the existing barriers to genomic sequencing in NICUs in the United States, explore the ethical implications related to low access, consider ways to increase access to genomic testing, and offer some suggestions for future research in these areas.