A Systematic Review of Randomized Controlled Trials to Assess Outcomes of Genetic Counseling

Abstract

With the advancements in precision medicine and health care reform, it is critical that genetic counseling practice respond to emerging evidence to maximize client benefit. The objective of this review was to synthesize evidence on outcomes from randomized controlled trials (RCTs) of genetic counseling to inform clinical practice. Seven databases were searched in conducting this review. Studies were selected for inclusion if they were: (a) RCTs published from 1990 to 2015, and (b) assessed a direct outcome of genetic counseling. Extracted data included study population, aims, and outcomes. Risk of bias was evaluated using the Cochrane Handbook for Systematic Reviews of Interventions guidelines. A review of 1654 abstracts identified 58 publications of 54 unique RCTs that met inclusion criteria, the vast majority of which were conducted in cancer genetic counseling setting. Twenty-seven publications assessed 'enhancements' to genetic counseling, and 31 publications compared delivery modes. The methodological rigor varied considerably, highlighting the need for attention to quality criteria in RCT design. While most studies assessed several client outcomes hypothesized to be affected by genetic counseling (e.g., psychological wellbeing, knowledge, perceived risk, patient satisfaction), disparate validated and reliable scales and other assessments were often used to evaluate the same outcome(s). This limits opportunity to compare findings across studies. While RCTs of genetic counseling demonstrate enhanced client outcomes in a number of studies and pave the way to evidence-based practice, the heterogeneity of the research questions suggest an important need for more complementary studies with consistent outcome assessments.

Evaluating empowerment in genetic counseling using patient‐reported outcomes

“…These findings were concordant with recent systematic reviews of clinical genetics outcome research, which concluded that patients benefit from genetic counseling and testing, particularly in the areas of knowledge, "perceived personal control", improved risk perception accuracy, and reduced anxiety. 27,28 Our findings were largely concordant with that of Tirado et al, 11 who found that the overall GCOS-24 score improved postcounseling and testing, specifically the cognitive domain. This is consistent with our findings that patients were in a better position to establish control over their conditions, namely by managing how it affects their families.…”

Defining the role of a genetic counselor within pediatric hematology and oncology comprehensive care teams: Perspectives of the provider team and patients

“…This was unexpected, given that the general definition of genetic counseling includes "helping people understand the… implications of genetic disease" (Resta et al, 2006). Although prior research has indicated that meeting with a genetic counselor is associated with positive patient outcomes and patients generally report satisfaction with their genetic counseling appointment (Athens et al, 2017;Buchanan et al, 2015;DeMarco, Peshkin, Mars, & Tercyak, 2004), the general public appears to be largely unfamiliar with the field of genetic counseling and may be misguided in their perception of a GC's purpose (Maio, Carrion, Yaremco, & Austin, 2013). However, given that all respondents included in this study were required to either work with a GC or have met with a GC before, it is difficult to compare this sample to previous studies.…”

Genetic counseling: Growth of the profession and the professional

“…Another important trend for the genetic counseling profession is an increased evidence base for practice, with expanded research in both the process and outcomes of genetic counseling (Athens et al, ; Madlensky et al, ; Meiser et al, ), coupled with models and analytical tools of genetic counseling. Early models were imported from other health and social sciences (e.g., Berkenstadt, Shiloh, Barkai, Katznelson, & Goldman, ; Grubs & Piantanida, ; McCallister, ; McConkie‐Rosell & Sullivan, ), but there are now models derived from genetic counseling practice (Liede et al, ; Redlinger‐Grosse et al, ; Veach et al, ).…”