Review Article | Open Access
Effectiveness of the Interventions Utilized in Genetic Counseling
Background. Advances in genetic science and biotechnology accumulated huge knowledge of genes and various genetic tests and diagnostic tools for healthcare providers including nurses. Genetic counseling became important to assist patients making decisions about obtaining genetic testing or preventive measures. Method. This review was conducted to describe the counseling topics, various interventions adopted in genetic counseling, and their effectiveness. Experimental studies () published between 1999 and 2012 were synthesized. Results. The most frequently covered topic was benefits and limitations of genetic testing on breast cancer ovarian and colorectal cancers. Most of researchers focused on evaluating cognitive aspect and psychological well-being. Conclusion. No single intervention was consistently reported to be effective. Decision aids enhanced with information technologies have potential to improve the outcomes of genetic counseling by providing tailored information and facilitating active engagement of patients in information uptake. Clinical Implication. When nurses are familiar with topics and interventions of genetic counseling, they are well positioned to provide genetic/genomic information to the patient and families.
As advances in genetic science and biotechnology have led to discovery of the genes that increase the risk for certain common diseases, various genetic tests and other diagnostic tools have become available to healthcare providers including nurses. As a result, the knowledge base for genetic counseling has become important to all healthcare professionals in terms of assisting patients with accessing timely screening, adopting healthy behaviors, and making decisions about obtaining genetic testing or aggressive preventive measures such as mastectomy, oophorectomy, or chemotherapy . In particular, genetic counseling impacted the entire nursing profession because nurses often need to provide genetic/genomic information to the patient and families in healthcare settings [2, 3]. Counseling for genetic risk deals with multilayered complicated information such as the risk for developing certain diseases and benefits and limitations of various options for predicting or preventing the diseases. Uncertainty is inherent in the information communicated during counseling, making it difficult for patients to fully understand the information provided and causing inconsistency in the perceived meaning of the provided information among patients [4–6]. Effective communication of the information on risk levels and potential benefits of preventive measures to individuals and their family members is one key element of realizing the benefits of genetic counseling [7–9].
Various interventions designed to facilitate the delivery of complex information to patients have been adopted in genetic counseling and these strategies and effects have been summarized in several review papers [10–12]. However, many of the reviews included a number of pilot studies whose findings were less conclusive, and the authors often described the effects of the interventions at a general “genetic counseling” level rather than relating to a specific intervention [10, 12, 13].
We conducted a literature review on the studies that investigated the effects of various interventions applied to genetic counseling. Specifically, we intended to describe (1) the specific content delivered during the risk counseling, (2) the specific methods used to communicate the content to the patients, and (3) the effectiveness of the methods on the main outcomes that the studies intended to measure.
A primary focus of genetic counseling in the 1960s and 70s was to assist patients with reproductive decision makings by educating them about etiology and recurrence risks of certain congenital conditions . Studies conducted in this period focused mostly on finding ways to increase a patients’ knowledge. However, since the 1990s, with the advances in genetic/genomic science the goals of genetic counseling are now more focused to promoting necessary changes in health behavior, adoption of timely screening for a hereditary disease, psychosocial adjustment to the stress caused by the increased risk of developing a hereditary disease, and promotion of informed decision making . As such, genetic counseling is now defined as “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease” . The central component of genetic counseling is providing information on the possibility of developing a hereditary disease and the risk management options to promote informed decision making [7, 15]. Therefore, effective delivery of the information on the genetic risk and the various risk mitigation options to the patients is the goal of genetic counseling.
Despite its importance, methods of communicating genetic risk between genetic counselors and patients are relatively understudied and underdeveloped . This is partly due to the fact that the genetic risk itself is a complex concept encompassing multiple related factors. A few examples of the risk factors are various personal and epidemiological risk factors, family cancer history, the probability of having a cancer predisposing gene in the family, the probability of identifying a genetic mutation in the family and in the individual, the risk of inheriting a genetic mutation from one’s own parents, and the risk of transmitting the mutated gene to one’s own offspring. Misattributed parentage occurs around 0.9% . Also most importantly, the information keeps changing. According to the Center for Disease Control and Prevention, different genes and mutations are identified on almost a daily basis (http://www.cdc.gov/genomics/update/current.htm).
In a more recent review, Meilleuer and Littleton-Kearney  synthesized thirteen published papers that described various methods of educating patients on multifactorial genetic risks and their effectiveness. This review describes the effectiveness of each method according to the detailed outcome categories concordant to the multilayered goals of genetic counseling that we previously described. According to this review, the use of computerized aids yielded more positive outcomes than other types of methods such as the use of video tapes and group counseling. However the generalizability of the findings seems limited as the focus of the review was narrowly defined as “multifactorial” genetic counseling and the review included relatively small number of studies (). In addition, it was not possible to discern what aspects of computerized decision aids led to the positive outcomes in this review as the interventions used in each study were described by high level categories rather than by specific functionalities of each computerized decision aid.
To address the limitations noted in the recent reviews, we conducted a literature review on the studies that reported the effectiveness of various interventions adopted in genetic counseling. We included only the experimental studies conducted as a randomized controlled trial or other types of clinical trial (i.e., pre- and postcomparison) to increase the validity of the findings.
3.1. Review Protocol
In order to conduct complete search and syntheses of results, we searched two biomedical journal data bases, Medline and CINAHL. Medline was searched using the MeSH term, “genetic counseling,” limiting the published date between 1999 and March of 2012; the study design was a randomized clinical trial or clinical trial and the abstract availability. We intentionally included journals published from 1999 to broaden our review. The same keyword-based search was conducted with CINAHL. The same limits on publication dates, the study design, language, and abstract availability were applied.
We retrieved 126 papers from Medline and 19 from CINAHL. Two reviewers (i.e., authors of this paper) reviewed the abstracts of the retrieved papers and obtained copies of articles if they met inclusion criteria: (1) the article was published between 1999 and 2012, (2) the design was a randomized clinical trial or clinical trial, (3) reported the effectiveness of specific educational or stress coping techniques or decision aids in genetic counseling, and (4) evaluated the effectiveness of different modes of communication (e.g., face-to-face versus telephone and individual versus group) or types of providers of genetic counseling (counselor, nurse, and physician).
Papers that do not fit the inclusion criteria by both reviewers were excluded from this review. Papers that met the inclusion criteria by only one reviewer but not the other remained in the paper pool and were determined relevancy after reading the full article. From the abstract review, we eliminated 75 papers from Medline and 10 from CINAHL. The two authors read the full text of the 60 papers. After reading the full texts, additional 17 papers and 4 redundant papers were excluded from the analysis because topics were not relevant, simulated genetic counseling, were assessing genetic risks only, or were a combination of genetic counseling and testing. Finally, a total of 39 articles were reviewed. This paper selection process was summarized in Figure 1. The details on the studies such as related study subjects, interventions, evaluation methods, findings, and any limitations posed in the studies were recorded into a table format during the review (Table 1).
|An article was retracted. (http://breast-cancer-research.com/content/14/2/R37).|
Majority of the studies (35 of 39) described the interventions related to genetic counseling on breast, ovarian, or colorectal cancers [19–25, 27–38, 40, 41, 43–56]. This is not surprising given that genetic associations were established mostly for these three types of cancers. Only one study dealt with cystic fibrosis  and three studies dealt with prenatal counseling [39, 42, 57]. Thirty-one of the thirty-nine studies were randomized controlled trials. The remaining eight studies evaluated the intervention effects by measuring and comparing the outcome variables at preintervention and postintervention time points without a control group [19–23, 32, 35, 42]. Most of the interventions were employed during individual counseling sessions, but a few studies evaluated the effectiveness of community-based group counseling itself without an additional intervention [35, 36].
4.1. Information Topics Covered in the Studies
Counseling topics were similar across studies. The topics covered in the reviewed studies are (1) knowledge on the hereditary conditions (family heredity, heredity cancer, absolute and/or relative risk levels, and risk factors), (2) benefits and limitations of genetic testing, (3) benefits of screening tests, (4) prevention options such as preventive surgery and/or chemotherapy, and (5) cultural beliefs and values on genetic testing. The most frequently covered topic was the benefits and limitations of genetic testing (found in twenty one studies) [30–32, 35, 36, 39–48, 50, 52, 54–57] and the second most frequently covered topic was general knowledge of hereditary conditions (found in eighteen studies) [27, 30, 31, 34, 35, 38, 40, 42, 43, 45, 46, 48, 50, 53–57]. Cancer prevention options and screening tests were found in five studies [33, 36, 38, 40, 41] and preventive surgery such as risk reduction mastectomy was found in three studies [28, 40, 50]. Cultural beliefs and values on genetic testing were discussed in one study which tested culturally tailored genetic counseling as an intervention .
4.2. Main Interventions Evaluated
We grouped the key interventions evaluated in the reviewed studies into three general categories: (1) various types of decision aids (paper based or nonpaper based), (2) specific techniques related to stress coping and decision making, and (3) other types of interventions that fall in neither category such as culturally tailored counseling.
4.2.1. Decision Aids
Eight studies (8 out of 31) have tested the effectiveness of decision aids in genetic counseling. Ten studies evaluated paper-based decision aids, which are in the forms of booklets, paper handouts (with or without illustrations), flip charts, or brochure [27, 29–31, 33, 35, 38, 44, 54, 57]. Paper-based decision aids were usually used during the counseling and also sent with the patients after the counseling as a future reference. Nonpaper-based decision aids were evaluated in ten other studies [28, 34, 42, 45, 46, 48–50, 55, 56]. In these studies, the nonpaper-based decision aids were implemented as CD-ROM, audio/video tapes, or computer programs. Some of these decision aides were interactive and provided tailored information according to the specific information needs of a patient. CD-ROMs and audio/video tapes were distributed either before or after the counseling, while computer programs were used immediately before the counseling (i.e., during the waiting time) or during the counseling.
4.2.2. Specific Techniques for Stress Coping and Decision Making
Six studies have evaluated the effectiveness of the techniques employed to improve psychocognitive well-being when dealing with stress related to positive genetic test results or positive family history of hereditary cancer or to facilitate decision making on uptake of a test or an aggressive preventive measure. The techniques employed in these studies are follow-up reinforcement, psychosocial group counseling, prelive of stressful situation, use of a decision guide tool, and problem-solving training [36, 39, 40, 43, 47, 53].
4.2.3. Other Interventions
Five studies evaluated various other approaches to genetic counseling such as providing culturally or personally tailored information to individual patients and multidisciplinary team counseling [32, 37, 40, 51, 52].
4.3. Evaluation Methods
The most frequently used evaluation method () was the self-reported questionnaire. The next most frequently used evaluation method was interview (), either face-to-face or over the phone. Four studies used both interview and survey for evaluation. Chart review was used in two studies as a way to check the office visit appointment made for genetic testing after counseling.
Fifteen studies evaluated the outcomes at multiple time points. Twenty-five studies evaluated the intervention effects comparing the postintervention assessments to the baseline assessments [29, 32–38, 40–48, 50–57]. Eleven studies evaluated outcomes immediately after providing interventions [27, 32, 39, 42–46, 48, 51, 57], but five studies did so 1 or 2 week(s) after the interventions [30, 31, 35, 40, 41]. Long term effects were evaluated in many studies but adopted time lapses varied from 1 month to 12 months. Overall, there was no notable pattern of changes in outcomes by the follow-up time points.
The interventions designed for improving psychological well-being related to genetic testing were evaluated specifically around the related events. For example, the level of worry and anxiety related to genetic test results were assessed before and after receiving the test results [32, 40, 47] and the decision conflict on uptake of genetic testing was assessed after making the decision [31, 43, 45, 48, 51].
Genetic counseling is an important clinical practice since it assists patients in choosing preventive screening test, adopting healthy behaviors, and making decisions about having genetic tests and preventive measures. Communicating accurate genetic risk levels effectively is the core process of genetic counseling. However, due to the complicated nature of the genetic risk, conducting such communication is challenging in clinical settings.
The studies that we reviewed were less diverse in terms of the target diseases and the population thus may not represent the genetic counseling domain in general. The majority (28 of 39, 71%) of the studies dealt with breast/ovarian or colorectal cancer and only four studies targeted congenital conditions. The subjects described in reviewed studies were mostly well educated Caucasians with moderate to high income, raising the need for including more diverse subject groups such as racial/ethnic minority groups, those with low income, and/or low educational backgrounds into similar studies. These various societal/economic factors may affect comprehension of the risk information provided, as well as decisions on adopting preventive measures.
Among the various information topics covered by the studies, detailed knowledge on hereditary disease was the most frequently appearing topic. However, despite their importance, topics of various preventive options, screening test, therapy options, and cultural beliefs/values were less frequently found in the studies. Considering that people responded more proactively to the risks that they can mitigate [58–60], specific risk mitigation options should be the topic regularly covered during the counseling.
Nineteen of thirty-one (61%) studies compared the effectiveness of a specific counseling method or aid to the traditional genetic counseling alone. Outcome variables were common across studies, mostly looking into cognitive (risk perception and knowledge), psychological well-being (decision conflict, cancer worries, depression, and distress), attitude or behavior change (intention to and/or actual uptake of screening test or preventive measures), and overall satisfaction with the interventions provided. Findings also varied across studies. Similar interventions did not necessarily yield similar outcomes. As noted in previous reviews, the intervention effects were less prominent in many studies and even contradictory across certain studies. One plausible reason might be the fact that personalized risk information was not communicated routinely during counseling even if communicating risk information was the central part of intervention . When an intervention is constructed in a way that personalized risk information can be delivered to the patient effectively, the intervention effects may increase consistently.
Two of thirty-one (6%) studies followed up on the actual behavior change. More studies () evaluated the intervention effects on the intention related to health behavior but only one of them followed up on the actual behavior change. Therefore, it is not clear if the intention can be a reliable proxy for behavior change. Although longer term follow-up can be a challenge, more evaluation is needed to better understand the effects of various genetic counseling interventions on the actual behavior outcome.
The studies investigated in this review show that a large amount of information is communicated with patients during limited counseling time. Also, the study findings suggest that any formats of decision aids can benefit both counselors and counselees in terms of time saving, streamlining the counseling process by providing readily available comprehensive information. Regardless of its format, however, the studies that used decision aids commonly showed increased knowledge, decreased decision conflicts, and increased satisfaction with counseling interventions. This implies that decision aids could serve as an essential tool in genetic counseling.
However, interventions () that incorporated information technologies (computer programs, CD-ROMs, and video/audio tapes) were not necessarily more effective than their controls in all outcome measures. Although computer programs or CD-ROMs are able to support the customization of information based on individual’s needs, two studies implemented the tailoring functionality in their decision aids. Studies () that utilized decision aids provide canned information to patients.
It is clear that information technologies can provide additional benefits by supporting information tailoring and allowing users to take an active role in information seeking and decision making. For example, the Harvard colorectal cancer risk assessment and communication tool for research (HCCRACT-R) by Emmons et al. (2004) was the computerized decision aid, which was notable for encouraging patients to actively engage in decision making by showing different risk levels adjusted by different choices of preventive measure . This study reported improvement in knowledge, risk perception, psychological well-being, and satisfaction with the use of this tool. However, intention or behavioral outcomes were not measured in this study.
Although intervention effect of using a computerized decision aid has not been proved widely, a computerized tool has potential to improve outcomes of genetic counseling because it provides a systematic way to customize risk and its mitigation information according to saliency of a patient. Such computerized decision aids can also present various educational topics such as risk level, disease related knowledge, family heredity, genetic testing, and screening options according to literacy of a patient, incorporating various presentation formats such as graphics and numbers.
The primary objective of this review was to describe the various methods employed to improve patient outcomes including health behaviors, psychological well-being, and enhanced decision makings by genetic counseling and their effects. The methods and outcome variables evaluated varied across studies. We found that no single method was consistently reported bringing positive outcomes, partly due to the relatively small scale of the review. Various risk communication methods should be developed and outcomes of each method are measured in randomized clinical trial studies. As more such experimental studies accumulate in this domain, a more comprehensive review needs to follow in the future.
Nonetheless the findings of this review suggest an opportunity of adopting decision aids enhanced with information technology. Enhanced (i.e., computerized) decision aids can support presenting various counseling topics in such a way that meets individual patient’s information needs. Providing information tailored to one’s need will ultimately improve outcomes of genetic counseling.
Since genetics and genomics knowledge are influenced in health care, demand for genetic counseling has increased. During genetic counseling sessions, vast amount of information is communicated between a counselor and a counselee. After or before genetic counseling, counselees and their families may feel comfortable sharing concerns and questions with nurses who are more familiar with them than other healthcare providers. Once nurses are knowledgeable in topics and interventions of genetic counseling, they are able to provide more information and further assistant (i.e., screening, referral for more assessment) for the patient and families.
Conflict of Interests
The authors declare that there is no conflict of interests regarding the publication of this paper.
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