Does the amount of family history matter? Perspectives of adult adoptees.

Family history is considered the gold standard for risk assessment of inherited conditions and is often used to inform preventative care. There are currently no provider guidelines that address caring for patients with a lack of family history, and adoptees report inconsistent care because of this. Through this qualitative study, we explored (1) how the amount of family history impacts adoptees' perceptions of healthcare and (2) adoptees' suggestions for improvement of their healthcare. Fourteen adult adoptees participated in semi-structured interviews via telephone or Zoom audio. Transcripts were analyzed using thematic analysis and interpretive phenomenology. Results revealed five themes: adoptees should have access to their family health history; several factors influence the importance of family history (reproduction, identity formation, age, and health concerns); many adoptees use direct-to-consumer testing to gain information about health risks or to find family members; completing history forms or being asked about family health history invokes negative emotions in adoptees; experiences with healthcare providers are variable for adoptees. These results show that unknown family health history can contribute to a negative perception of healthcare. Adoptees perceive family health history as important to know, and not having this information brings up complex emotions in the healthcare setting. To help mitigate the disparities and the negative emotions that adoptees feel, genetic counselors should consider acknowledging the complex emotions, reassuring adoptees with available preventative care, and revising preclinical paperwork, such as family health history questionnaires, to be more inclusive of those who lack this information. These changes have the potential to significantly improve healthcare experiences for adoptees. Healthcare providers, especially genetic counselors, need to continue to learn about and advocate for this population.

Genetic counseling graduate training to address religion and spirituality in clinical practice: A qualitative exploration of programs in North America.

Patients receiving clinical genetics services often navigate emotionally difficult situations and may utilize their faith as a source of support, an aid in decision-making, or a core coping strategy. Although patients have expressed interest in discussing their religious or spiritual (R/S) beliefs with their genetic counselor (GC), GCs may avoid such conversations because they feel they do not have the necessary skills to discuss R/S beliefs (Reis, Baumiller, Scrivener, Yager, & Warren, 2007). This qualitative study explored how GC programs in North America currently prepare their students to discuss R/S matters with their patients. The aims of this study were to identify (1) the R/S topics genetic counseling programs currently cover in the curriculum, (2) how genetic counseling programs evaluate their students within the R/S topics and activities that are included in the curriculum, and (3) the value or importance placed on R/S training by genetic counseling program directors. Leaders of 12 (36%) of the 33 eligible GC programs at the time of the study participated in a semi-structured phone interview. Their responses were coded using open and axial coding techniques and analyzed using grounded theory. Results revealed that R/S issues are often covered during the psychosocial portions of the curriculum through writing assignments, in class exercises, and role plays. Almost all participating programs include information on pastoral care services, but have little to no training about specific R/S beliefs or the use of spiritual surveys. While participating program directors emphasized that it is critical for students to be prepared to hold conversations about patients' R/S beliefs, the strategies used to prepare students are inconsistent and often not evaluated. We provide suggestions for enriching the R/S training in genetic counseling graduate programs in order to prepare students to facilitate discussions around patients' religion and/or spirituality in genetic counseling sessions.

Access barriers to genetic services for Spanish-speaking families in states with rapidly growing migrant populations.

Hispanics are among the fastest growing U.S. population segments, accounting for the majority of growth since 2000. Hispanics are heterogeneous and include foreign-born and U.S. citizens, monolingual fluent English speakers, monolingual Spanish-speakers, multilingual speakers, and socioeconomically and educationally diverse subgroups. States within the central United States (U.S.), referred to as the Heartland, have numerically small Hispanic populations, but rapidly growing Hispanic populations that are expanding faster than the overall U.S. Hispanic population. The Hispanic populations across the U.S. are widely known to be medically underserved. This qualitative study identifies barriers native Spanish-speakers experience when locating and accessing genetic services for their children. After providing informed consent, 29 parents in three Heartland states were interviewed and asked about their awareness of available genetic services, utilization of available services and difficulties they encountered when using them. Interviewees reported delayed genetic service referrals, limited availability and inadequate interpretation services, verbal and written communication problems during clinic visits, culturally incongruent healthcare expectations and limited appreciation for how genetic services benefit them. Necessary efforts to understand and improve genetic service access and usefulness for Hispanic populations are underway in the Heartland and elsewhere and should continue to be expanded.

Newborn screening: education, consent, and the residual blood spot. The position of the national society of genetic counselors.

Newborn screening (NBS) is a minimally invasive lifesaving test. There is currently no federal mandate for NBS, thus states determine their own screening panel based on the recommendations of the Secretary's Advisory Committee on Heritable Disorders in Newborn and Children (SACHDNC), which was recently re-chartered as the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC). After NBS is completed, a couple of residual blood spots remain. While some states allow these spots to be used for public health and scientific research purposes, parents are not always informed about these additional uses. This paper addresses the National Society of Genetic Counselors' (NSGC's) position about NBS and blood spot storage/use and the rationale for these positions. The National Society of Genetic Counselors strongly supports newborn screening for the uniform screening panel of conditions recommended by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. NSGC also supports storage and use of blood spot samples by newborn screening laboratories and transparent policies that govern these activities.