Introduction

Genetic counselors are health care providers who have completed specialized graduate training to function as professionals in this discipline. While the term “genetic counseling” can be used somewhat generically to describe the activity of genetic counseling, regardless of the type of health care provider involved, we use the term genetic counseling in this paper to mean an intervention delivered by individuals trained as genetic counselors specifically.

The practice of genetic counseling has been defined as, “…the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease”. The definition states that the process includes three components- risk assessment, education, and counseling (NSGCDTF 2006). Outcomes that are stated or can be implied from this definition include: improved patient knowledge through effective education and attention to the impact of genetic information; accurate identification and communication of risk on the part of the genetic counselor; and informed patient decision-making. The adaptation component of the definition alludes to multiple potential outcomes including improving patient adherence to available medical management recommendations, enhancing quality of life, reducing morbidity and mortality, and promoting patient sharing of information with at-risk relatives. In addition, genetic testing is increasingly a component of risk assessment. Appropriate genetic testing, which encompasses identifying the right genetic test(s) and offering it to appropriate patients, might also be a potential genetic counseling outcome.

Rising health care costs in the absence of concomitant improvements in the public’s health are driving health care professionals, including genetic counselors, to identify and implement evidence-based strategies that improve patient outcomes. Prior work to generate a comprehensive list of genetic counseling outcomes includes work by The Western States Genetics Services Collaborative. This group developed an outcomes menu for public health and clinical genetics services based on a review of the literature, two existing documents describing genetics outcomes, and an iterative review process (Silvey et al. 2009). The group identified 12 major outcomes with 42 sub-outcomes falling into five impact areas: knowledge and information; financing; screening and identification; diagnosis, treatment and management; and population health. Outcomes specific to genetic counseling included making informed health and life decisions based on a genetic diagnosis, participating in treatment “at optimal levels” after genetic counseling, and feeling supported in managing their emotional reactions to the genetic information (Silvey et al. 2009).

Establishing a set of meaningful genetic counseling outcomes, although not without its challenges, is critical to supporting evidence-based practice in genetic counseling. The goals of this rapid systematic literature review are 1) to catalogue and summarize the outcomes that have been previously measured in the setting of genetic counseling provided by genetic counselors; 2) to identify potential gaps in the literature; 3) to discuss some of the challenges in outcomes research; and 4) make recommendations about future outcomes research in genetic counseling.

Methods

We conducted a literature review using a “systematic rapid-review” approach (Ganann et al. 2010). The Web of Science (including Pub Med) and CINAHL databases were searched using the terms “genetic* counsel*” and “genetic consul*” to capture all papers with a title, abstract, or topic that included the phrase “genetic counselor”, “genetic counseling”, “genetic consult” and variant spellings. Searches were performed on July 18, 2013, no date limits were applied. Searches were refined to exclude case reports and non-peer reviewed journal articles (such as commentaries), non-English papers, and animal studies. Our primary goal was to simply catalogue the outcomes that had been used in previous research, not to apply any quality metrics or meta- analyses as might be done in a more traditional systematic review of an intervention.

The inclusion criteria were:

  1. 1)

    Genetic counseling was provided by non-physician genetics specialists. (Masters-level genetic counselor, advanced practice genetics nurse, or other graduate-level genetics specialist trained in accordance with the standards and accreditations appropriate to that country). In the case of multiple types of providers performing genetic counseling within a study, the study was included if the majority of providers were non-physician genetic counselors. We excluded studies that measured the outcomes of genetic testing. Receiving a genetic test result as part of a genetic counseling session is an event that may profoundly alter medical management or reproductive decision-making in and of itself. As such, genetic testing is likely to have outcomes that are distinct from genetic counseling outcomes.

  2. 2)

    Measures occurred before and after genetic counseling (pre-post design) OR measures were compared between a genetic counseling arm vs some other intervention or a control arm that did not include genetic counseling (comparative cohort design).

One author reviewed the initial list of references and papers that clearly did not meet eligibility criteria were excluded. The remaining abstracts were each reviewed by two authors independently to determine inclusion. When the two authors did not agree on eligibility, discussion between the two authors resulted in resolution in all cases. In cases where eligibility could not be determined from the publication (e.g., in cases where the paper did not indicate who provided the genetic counseling), the corresponding author of the respective paper was contacted for clarification. Once the list of eligible studies was finalized, key data elements were extracted from the published papers and summarized. Variables extracted included sample size, clinical setting, geographic location, study design, patient/family characteristics, outcome measures reported, and results.

Results

The Web of Science/PubMed search identified a total of 13,329 papers; CINAHL identified 1038. An initial review of all abstracts resulted in retention of 1063 references for further review. A total of 23 papers met our inclusion criteria. The clinical setting, geographic location, study design, and outcomes measured are reported in Table 1.

Table 1 Characteristics of studies that reported outcomes of genetic counseling (n = 23)
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Eleven studies compared patients receiving genetic counseling to a control or comparison group (Table 2), and twelve studies used a pre- post- design (Table 3). There were six randomized trials that directly examined genetic counseling versus some other intervention. Most studies were conducted in the United States with Masters-level genetic counselors providing the genetic counseling.

Table 2 Comparative studies- randomized or observational
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Table 3 Observational, single-arm studies with pre-post design
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Table 4 summarizes the measures used and the results of the included studies, organized by outcome domains. The most frequently measured outcomes were knowledge, satisfaction, anxiety and distress (including disease-specific distress and general distress), perceived risk, genetic testing (intent or receipt), decisional conflict, and health behaviors (including adherence). Measures used were a mix of previously validated measures and study-specific measures.

Table 4 Results of studies by outcome type
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Knowledge

The outcome studied most extensively in this review is knowledge. This is not unexpected given that education is one of the primary components of the genetic counseling process, and knowledge can be measured in a variety of settings. The majority of studies that used a pre-post design showed an increase in knowledge across several different practice settings. However, the majority of studies were in the hereditary breast cancer setting. All studies measured knowledge within 6 months of genetic counseling. The few studies that compared genetic counseling to a different educational intervention (e.g., pamphlet, computer-based modules) found that genetic counseling and the other interventions all increased knowledge.

Anxiety, Depression, Distress

Five studies measured anxiety. Four of these studies used the State Trait Anxiety Inventory (STAI) and all studies showed either decreases or no change in anxiety levels. No studies found an increase in anxiety. Four of the five studies were conducted in the hereditary breast cancer setting.

Several studies evaluated depression, concern, negative affect, and/or distress. Notably, several studies in the cancer setting specifically used the Impact of Events Scale, where genetic counseling was the “event”. The majority of studies demonstrated no change in distress, with a few showing reduced distress.

Perceived Risk

All but one study of perceived risk were in the breast cancer setting where a variety of study-specific measures were used. Most studies showed a decrease in perceived risk. This result was interpreted as a beneficial outcome as many study participants were overestimating their cancer risk at baseline.

Satisfaction/Perceived Usefulness

Five studies examined satisfaction with the genetic counseling process, or satisfaction with decision-making. A study by Hunter et al. (2005) is notable as it was a randomized trial of various genetic counseling approaches in the prenatal setting. The study found that women having individual genetic counseling were more satisfied than women receiving group genetic counseling or who were given a decision aid.

Genetic Testing Intent or Receipt

All except one of the five studies looking at intention to undergo genetic testing or receipt of genetic testing were in the breast cancer genetics setting; in some cases the goal was to decrease inappropriate testing intentions in low-risk women.

Health Behaviors Including Adherence

Five studies measured aspects of health behavior. One study, conducted in the diabetes setting, measured weight loss and attendance at a 12-week lifestyle balance course. Another study, conducted in the cancer setting, measured breast cancer screening practices. A third study investigated lifestyle and health changes (weight, blood pressure, sodium intake and physical activity) in a hypertensive population. The fourth investigated adherence to medical management recommendations (various) in a pediatric genetics patient population. The fifth investigated adherence to medical recommendations made in a pediatric genetics clinic.

Decisional Conflict

Three studies measured decisional conflict; all used the Decisional Conflict scale and all showed decreases in decisional conflict. Two studies were in the cancer setting and one was in the prenatal setting.

Other Outcomes

The review identified several outcomes that were measured in only one or two studies, including: self-esteem, quality of life, family outcomes (communication and relationships), and perceived personal control.

Discussion

Although our findings are based on the relatively small number of studies meeting our inclusion criteria, the studies to date show that a wide variety of outcomes can be considered in genetic counseling research. Results of these studies demonstrate that genetic counseling can lead to increases in knowledge, perceived personal control, positive health behaviors, and increased accuracy of perceived risk. Anxiety, cancer-related worry, and decisional conflict often decrease following genetic counseling, and patient satisfaction is typically high. The studies we identified used a variety of different measures which limits the ability to make specific cross study comparisons. Furthermore, the majority of studies we reviewed occurred within the oncology/cancer risk setting which limits applicability to the other practice settings such as reproductive or pediatric genetics. The focus on outcomes in the cancer setting may be due to the availability of evidence-based guidelines for cancer genetic risk assessment and widespread interest and availability of genetic counseling and testing for familial breast and ovarian cancer risk.

An important strength of the current review stems from the broad search terms and methods we used to increase our ability to capture relevant papers meeting our inclusion criteria. Despite our efforts, additional studies meeting our criteria may not have been captured. Furthermore, this review must be interpreted in light of our strict criteria which deliberately focused on genetic counseling as provided by predominantly masters-level genetic counselors. We identified some additional studies that included advanced practice genetics nurses, and other types of genetic counselors as defined by their jurisdiction at the time of the study (for example, the Australian graduate diploma in genetic counseling). A recent review by McAllister and Dearing (2015) used a broader definition of “genetic services” which included genetic counseling by physicians, non-physicians, and genetic testing. In contrast, our review excluded studies that combined the outcomes of genetic counseling and testing, as our focus was to look at what outcomes had been measured in the context of the genetic counseling process, rather than as the result of a genetic test. Finally, several cross-sectional studies that showed patient satisfaction with genetic counseling or other post-genetic counseling only measures were also excluded from this review as there was no baseline comparison measure. It should also be noted that we identified two additional studies that were published following our cut-off date for the review that meet our inclusion criteria; Hippman et al. (2016) measured knowledge, risk perception, internalized stigma, and perceived control over illness in a pilot randomized trial of genetic counseling vs. an educational booklet; results indicated that genetic counseling improved risk perception and both interventions improved knowledge. Palmer et al. (2014) found that understanding of genetic test results improved after genetic counseling, and deaf identity remained stable in a sample of individuals undergoing genetic testing for mutations in genes related to deafness.

An important limitation of this study is that we did not attempt to evaluate the quality of the individual studies or identify biases that might be present in the study designs. Although randomized controlled trials are considered the gold standard, the quality can vary widely. We also chose to include pre-post study designs, even though they are typically less scientifically rigorous, because we were primarily interested in capturing a broad spectrum of the types of outcomes that have been studied. Future work is needed to incorporate scales and checklists (such as CONSORT) that have been developed to rate the quality of studies.

Despite study limitations, critical gaps that this review highlights include the relatively small number of genetic counseling outcomes studied to date and lack of studies that focus on morbidity, mortality or other long-term health outcomes. However, several outcomes may have direct or indirect influences on morbidity and mortality. For instance, genetic counseling may influence self-efficacy to follow treatment or surveillance recommendations as well as adherence to these recommendations in cases where such recommendations have been shown or are expected to result in decreased morbidity and mortality. Self-efficacy was not an outcome evaluated in any of the studies we identified. However, after the date of our literature search, a randomized controlled trial of individuals with a first degree relative of colon cancer was published in which genetic counselors delivered a motivational interviewing risk communication intervention designed to increase perceptions of colorectal cancer risk and disease severity as well as self-efficacy and response-efficacy. That study found that rates of colonoscopy were substantially higher in the intervention group (35.4%) as compared to the comparison group who received mailed informational materials only (15.7%) (Kinney et al. 2014). Nevertheless, unlike colorectal cancer, not all genetic or familial conditions have clear treatment or prevention guidelines that reduce morbidity and mortality and therefore the effect of genetic counseling on other measures such as self-reported quality of life may be areas to explore. Likewise, in prenatal genetic counseling, where the primary goal is autonomous, informed decision making, measures such as decisional conflict and perceived personal control may be more appropriate.

Additional focus on patient-reported genetic counseling outcomes is critical as healthcare shifts to a more patient-centered focus that emphasizes value and outcomes. All potential outcomes of interest, particularly those that have not been evaluated or that were included in only a single study in our review, will require additional verification in a wider variety of settings. Identification or development of standardized measures would also be useful for assisting in the ability to make comparisons across settings and across studies. Some outcomes scales specific to the genetic counseling setting have already been developed (McAllister et al. 2011), but our search did not identify any studies meeting our inclusion criteria that used this instrument within our search dates. A Satisfaction with Genetic Counseling scale has also been published (Shiloh et al. 1990) and was used in one study in our review. Several general measures that have been validated in multiple populations were used repeatedly (e.g. STAI, Impact of Events), but these were primarily in the cancer setting and were focused on cancer-related distress or distress related to cancer genetic counseling.

At the present time, there is a limited, but growing body of literature on genetic counseling outcomes to guide evidence-based practice. However, there are a number of challenges to measuring these outcomes. One challenge is that there are a variety of health care professionals who provide genetic counseling services. Some, such as Master’s trained genetic counselors, advanced practice genetics nurses, physician medical geneticists, and PhD medical geneticists have specialized training and certification in genetics whereas others may have no or minimal training in genetics. These differences may translate into variations in how genetic counseling is provided by genetics professionals versus other health professionals who offer genetic services, which limits the validity of comparing genetic counseling outcomes across professions and also highlights the need to identify which genetic counseling processes or strategies contribute most to patient outcomes.

Even amongst genetic specialists, clinical training, practice-based competencies and scopes of practice vary (ACGC 2013; ACMG 2011). For instance, in the United States and Canada, genetic counselor training is focused on four competency domains- genetics expertise and analysis, interpersonal communication, psychosocial and counseling skills, education, and professional development and practice (ACGC 2013). Competencies for the physician medical geneticists overlap with many aspects of the genetic counselor competencies in areas such as genetics knowledge, family history taking, risk assessment and genetic testing (ACMG 2011). However, the geneticist competencies include the physical examination and treatment components that are not part of the genetic counselor scope of practice. In contrast, the genetic counselor competencies have greater emphasis on the patient education and counseling skills that are key components of genetic counselor’s role (ACGC 2013). As such, the outcomes of a genetic counseling session performed solely by a medical geneticist may or may not be similar to those of sessions conducted by a genetic counselor.

Another factor that makes it difficult to measure genetic counseling outcomes is the diverse practice settings in which genetic counselors work. The 2014 National Society of Genetic Counselors’ Professional Status Survey revealed that 35% of clinical genetic counselors work in prenatal genetics, 12% in pediatric genetics, 29% in cancer genetics and 24% in other specialties, the most common of which are research, general genetics, cardiology, specialty disease, laboratory, infertility/IVF, metabolic disease, and neurogenetics (NSGC 2014). There are some desired outcomes that are common across practice settings such as patient satisfaction, accurate risk assessment, informed decision making and adaptation to genetic disease or risk. However even these potential “core” outcomes are conceptualized heterogeneously in different genetics settings. Some outcomes, such as reducing morbidity and mortality through screening, risk reduction and preventative measures, may be most relevant to services such as cancer or cardiovascular genetics. Measuring outcomes is further complicated by the fact that genetic counseling is strongly rooted in promoting patient/family autonomy (NSGC 2006), especially in the prenatal and infertility/assisted reproductive technology settings. As such, outcome measures like disease prevention are not applicable, while measures of decisional conflict or distress may be more suitable for such settings.

A further complicating factor in measuring genetic counseling outcomes is the tight link between genetic counseling and genetic testing. With genetic tests available for over several thousand genetic conditions, genetic testing is an increasingly common part of the genetic counseling process in many practice settings. If outcomes are measured after both genetic counseling and genetic testing have occurred, it is difficult to assess whether the outcomes are the result of the counseling, testing, or a combination.

To overcome the many complicating factors mentioned above, we have developed six recommendations for moving forward with genetic counseling outcomes research described below.

  1. 1.

    Improve published descriptions of genetic counseling interventions

    It is important to design studies that consider and better document what was done in the genetic counseling session and by whom. This may help overcome several of the challenges we describe related to a variety of provider types who offer genetic services and variability in practices that may occur even within the field of genetic counseling.

  2. 2.

    Design studies that distinguish outcomes of genetic counseling vs genetic testing

    Our review criteria led to the elimination of several studies because we were unable to discern the effects of these two separate, yet highly intertwined interventions. It is critical to capture how genetic counselors may be helping individuals adapt after they receive their test results. Indeed our inclusion criteria may partially explain the relatively small number of outcome types identified in our review.

  3. 3.

    Conduct literature reviews or longitudinal studies aimed at identifying appropriate intermediate endpoints, or at developing an indirect chain of evidence linking proximal to distal outcomes

    Research is needed to determine which, if any, of the previously studied outcomes are most strongly correlated with or influence more distal or long-term outcomes such as morbidity, mortality, mental health, and social health. One of the primary goals of outcomes research will be to identify measures that can be used to evaluate the quality of genetic counseling delivered by various providers. Importantly, the U.S. National Quality Measures Clearinghouse does not consider most of the “outcomes” we identified in this review to be outcomes until or unless there is sufficient evidence showing they influence the aforementioned distal health outcomes.

  4. 4.

    Consider strategic inclusion of outcomes that are widely accepted by healthcare organizations to facilitate outcomes-based reimbursement

    Given that genetic counselors function in healthcare settings highly concerned about reimbursement, it may be strategic to focus on “outcomes” that are strongly correlated with or have been shown to influence distal health outcomes. Nevertheless, we should recognize that certain “outcomes” may be important to patients even if they are not linked to health outcomes. Outcomes that are highly valued by patients could be considered for a different type of quality measure by the National Quality Measures Clearinghouse because they reflect patient-centered care.

  5. 5.

    Increase the use of theoretical models or frameworks when designing outcomes studies

    Theories, frameworks, and models may help researchers consider a broader array of outcomes and they also can provide a rationale for why we expect what we do to have an effect on certain outcomes (or not). In planning our review we did not consider extracting data about whether studies were informed by theoretical models or frameworks. However, we noted that the vast majority of studies did not mention these in their design considerations. Furthermore, several studies failed to provide a compelling rationale for why they selected the measures they chose.

  6. 6.

    Develop a standard set of well-validated measures that can be harmonized across multiple types of genetic counseling studies

    Finally, having a standard set of defined outcomes and measures should help us more easily and more robustly build an evidence base for the genetic counseling profession; this would also allow for study comparisons and meta-analyses in the future. However, we do not believe that this review provides enough information to make recommendations about standard measures. Before making such recommendations we believe it would be prudent to further evaluate and consider of the following:

    • Data on what outcomes are most important to patients/clients as well as other stakeholders (i.e., third-party payers)

    • Theories, models, frameworks, and data to provide a rationale for or evidence linking genetic counseling processes to outcomes we identified and to distal health outcomes

    • Review of outcome studies that did not meet our inclusion criteria or that were conducted in other healthcare contexts outside genetic counseling

    • The extent to which the measures have been demonstrated to be reliable, valid, and sensitive to change in various genetic counseling settings

Conclusions

To date, there are no consistent measures of genetic counseling outcomes across studies. However, there is evidence that genetic counseling can increase knowledge, decrease distress, and lead to benefits for patients across several outcome measures. There is a need for further outcomes research measuring longer term and health outcomes and for research in a wider variety of genetic counseling settings.