Graduate training, credentialing, and continuing education to prepare genetic counselors for laboratory roles-Results of a national survey.

Opportunities for genetic counselors to work in a variety of practice settings have greatly expanded, particularly in the laboratory. This study aimed to assess attitudes of genetic counselors working both within and outside of the laboratory setting regarding (1) the re-wording and/or expansion of key measures of genetic counselors' competency, including practice-based competencies (PBCs) and board examination, to include laboratory roles, (2) preparation and transferability of competencies developed in master's in genetic counseling (MGC) programs to different roles, (3) need of additional training for genetic counselors to practice in laboratory settings, and (4) preferred methods to obtain that training. An e-blast was sent to ABGC diplomats (N = 5458) with a link to a 29-item survey with 12 demographic questions to compare respondents to 2021 NSGC Professional Status Survey (PSS) respondents.

Need for additional training to be a laboratory genetic counselor-A qualitative exploration.

Opportunities for genetic counselors to work in the laboratory have grown exponentially, yet the professional development needed to serve in these roles had not been previously explored. This study aimed to identify competencies required for entry-level genetic counselors working in the laboratory, explore the perceived level of preparation of these competencies as noted by experts in the laboratories, and assess the perceived value of additional credentialing for genetic counselors practicing in these settings. Twenty genetic counselors working in the laboratory setting and five MD or PhD laboratory managers, identified through purposeful and snowball sampling and with at least 5 years of experience working in a laboratory, were interviewed using a semi-structured protocol.

No longer "non-traditional": Genetic counselors' perceptions towards laboratory and industry roles.

A growing percentage of genetic counselors are employed in roles that do not involve direct patient care, commonly in commercial diagnostic laboratories. This study aimed to assess characteristics of laboratory and industry (LI) roles and perceptions of the genetic counseling community's views towards such roles. Members of NSGC and ABGC were invited to participate in this study.

A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility.

Purpose: Adult-onset disease risks associated with carriers of recessive disease have and will continue to be identified. As carrier screening becomes more broadly utilized, providers face the dilemma of whether they should discuss these risks during discussions with prospective parents. This study aimed to understand whether preconception/prenatal genetic counselors (PPGCs) were aware of the risk of Parkinson disease in carriers of, and persons with, Gaucher disease and the reasons behind choosing whether to discuss this risk with patients.

A guidelines-consistent carrier screening panel that supports equity across diverse populations.

Purpose: The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) suggest carrier screening panel design criteria intended to ensure meaningful results. This study used a data-driven approach to interpret the criteria to identify guidelines-consistent panels.

Methods: Carrier frequencies in >460,000 individuals across 11 races/ethnicities were used to assess carrier frequency.

OB/GYN residents' training, attitudes, and comfort level regarding genetics.

Purpose: While the availability, utility, and complexity of genetic testing expands, limited information exists regarding obstetrician-gynecologist (OB/GYN) residents' knowledge of genetics and confidence in providing genetic services. This study examined OB/GYN residents' educational and clinical experiences with genetics during residency, personal attitudes regarding the value of genetics and its role in their practice, level of comfort with genetic counseling, and potential motivators for learning about genetics.

Methods: Eligible participants included residents currently enrolled in a CREOG-associated OB/GYN training program in the USA or Canada.

Genetic counseling student rotations in industry: How COVID-19 magnified the urgency for virtual learning options in diverse training settings.

The COVID-19 pandemic created unprecedented challenges worldwide that required rapid adaptation and transformation across the entire healthcare system. Graduate medical training programs across all specialties have moved to rapidly adjust to the virtual landscape. This created a unique opportunity for genetic counselors who work in industry and within diagnostic laboratories to develop internship and rotation programs that can be offered virtually to meet the needs of genetic counseling training programs.

Not just carriers: experiences of X-linked female heterozygotes.

Purpose: To better understand the needs and experiences of the X-linked carrier community to improve future recognition, diagnosis, and treatment by bringing X-linked carrier voices together.

Methods: An anonymous survey link was distributed to members of Remember the Girls, a non-profit organization for female (XX) carriers of X-linked conditions, through its website, Facebook group, Instagram, and Twitter. The survey was developed to gather data on XX carriers of numerous X-linked conditions.

What women want: General population perspectives and access to preconception expanded carrier screening.

Objective: Expanded carrier screening (ECS) assesses the risk of individuals and couples of having a child affected with a set of genetic conditions. Carriers have options available to optimize pregnancy outcomes based on personal values and preferences. The greatest range of options is available prior to pregnancy, therefore professional societies recommend this screening be performed preconception.

Evaluating the efficacy of three carrier screening workflows designed to identify at-risk carrier couples.

Objective: To evaluate the efficacy of three different carrier screening workflows designed to identify couples at risk for having offspring with autosomal recessive conditions.

Methods: Partner testing compliance, unnecessary testing, turnaround time, and ability to identify at-risk couples (ARCs) were measured across all three screening strategies (sequential, tandem, or tandem reflex).

Results: A total of 314,100 individuals who underwent carrier screening were analyzed.

Genetic counselors' perspectives on population-based screening for BRCA-related hereditary breast and ovarian cancer and Lynch syndrome.

Early identification of those with BRCA-related Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and Lynch syndrome has the potential for early cancer detection and/or prevention; as such, these conditions are considered Tier 1 genetic conditions by the U.S. Center for Disease Control and Prevention.

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.

Background: Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four severity-related ECS panel design criteria cited by the American College of Obstetricians and Gynecologists (ACOG).

Summary report of the 2019 Diversity and Inclusion Task Force of the National Society of Genetic Counselors.

The size and reach of the genetic counseling profession have expanded on a global scale since the 1970s. Despite this growth, the profession of genetic counseling has remained demographically homogenous. Promoting a culture of inclusivity that supports visible and invisible diversity and leveraging that culture not only expands perspectives represented in the field, but also helps foster equity in genetic services.

Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management.

Noninvasive prenatal screening (NIPS) utilization has grown dramatically and is increasingly offered to the general population by nongenetic specialists. Web-based technologies and telegenetic services offer potential solutions for efficient results delivery and genetic counseling. All major guidelines recommend patients with both negative and positive results be counseled.

Clinical utility of expanded carrier screening: results-guided actionability and outcomes.

Purpose: Expanded carrier screening (ECS) informs couples of their risk of having offspring affected by certain genetic conditions. Limited data exists assessing the actions and reproductive outcomes of at-risk couples (ARCs). We describe the impact of ECS on planned and actual pregnancy management in the largest sample of ARCs studied to date.

Biobank participant support of newborn screening for disorders with variable treatment and intervention options.

We aimed to better understand biobank participant opinions of the benefits of newborn screening (NBS) for certain disorder types and how terminology used in NBS discourse might impact stakeholder opinion. We conducted a between-subjects randomized survey of 5840 members of the Northwestern University Biobank. The survey contained 12 scenarios, each describing a disorder and its treatment.

Clinical events in a large prospective cohort of children with sickle cell disease in Nagpur, India: evidence against a milder clinical phenotype in India.

Background: The clinical phenotype of sickle cell disease (SCD) has been reported to be milder in India than in the United States. The objective of this large single-center study was to examine the rate of complications to define the phenotype of SCD in India.

Methods: The rate of complications per 100 person-years in 833 pediatric SCD patients for 1954 person-years in Nagpur, India including those diagnosed on newborn screen (NBS) and those presenting later in childhood (non-NBS) was compared to those reported in the cooperative study of sickle cell disease (CSSCD).

Carrier screening in the era of expanding genetic technology.

Purpose: The Center for Jewish Genetics provides genetic education and carrier screening to individuals of Jewish descent. Carrier screening has traditionally been performed by targeted mutation analysis for founder mutations with an enzyme assay for Tay-Sachs carrier detection. The development of next-generation sequencing (NGS) allows for higher detection rates regardless of ethnicity.

Prevalence of the β(S) gene among scheduled castes, scheduled tribes and other backward class groups in Central India.

Sickle cell disease is an inherited disorder of the blood, and characterized by vasoocclusive crises (VOC), risks for pneumococcal infections and organ toxicities, is associated with morbidity and premature mortality. India, with a population of 1.2 billion individuals, is estimated to be home to over 50.