PROFESSIONAL ISSUES

Genomic Counseling: Next Generation Counseling

Rachel Mills & Susanne B. Haga

Received: 27 August 2012 /Accepted: 1 August 2013# National Society of Genetic Counselors, Inc. 2013

Abstract Personalized medicine continues to expand withthe development and increasing use of genome-based testing.While these advances present new opportunities for diagnosisand risk assessment, they also present challenges to clinicaldelivery. Genetic counselors will play an important role inushering in this new era of testing; however, it will warrant ashift from traditional genetic counseling to “genomic counsel-ing.” This shift will be marked by a move from reactivegenetic testing for diagnosis of primarily single-gene diseasesto proactive genome-based testing for multiple complex dis-eases for the purpose of disease prevention. It will also requirediscussion of risk information for a number of diseases, someof which may have low relative risks or weak associations,and thus, may not substantially impact clinical care. Addition-ally, genomic counselors will expand their roles, particularly inthe area of health promotion to reduce disease risk. Thisadditional role will require a style of counseling that is moredirective than traditional counseling and require greater knowl-edge about risk reducing behaviors and disease screening.

Keywords Genomic counseling . Genome-based testing .

Practice development . Genomics .Whole genomesequencing . Direct-to-consumer testing

Introduction

With the increasing availability and uptake of genome-basedtesting for individual risk assessments, a shift from traditionalgenetic counseling to what has been referred to as “genomiccounseling” (Sturm and Manickam 2012) may be warranted.

Though genetic counselors are likely the most qualified todiscuss genome-based testing with patients, the current prac-tice paradigm was developed primarily for diagnosis of chro-mosomal abnormalities and single-gene diseases (Phimisteret al. 2012) and therefore, would require additional trainingand modifications to the current service delivery model. Anumber of recent publications have highlighted some of thechallenges associated with counseling for whole genome/exome sequencing or direct to consumer (DTC) testing(Ashley et al. 2010; Middleton 2012; Riordan et al. 2012;Roberts et al. 2011; Sturm and Manickam 2012; Waxler et al.2012; Corpas 2012; Darst et al. 2013). These case reportsprovide some insight on how genetic counseling will need toevolve tomanage changeswith respect to both scope and type ofinformation to be communicated to the patient. In this paper, weexplore some of the general challenges and differences in geno-mic counseling compared to traditional genetic counseling, andoffer some suggestions to advance the field of genomic counsel-ing to keep pace with the development of genome-based testing.

Genetic vs. Genomic Counseling

The practice of genomic counseling will differ from traditionalgenetic counseling in four areas: 1) the number and/or type ofdiseases for which testing is available and discussed, 2)purpose of testing, 3) intervention and clinical utility and 4)access to testing. The current focus on highly penetrant single-gene disorders and chromosomal aneuploidies contrasts withgenomic risk assessments for complex, multi-factorial diseasetypically with low penetrance. For genomic testing, use ofarray-based platforms or whole genome or exome sequencingwill generate numerous findings of varying levels of risk,clinical validity and clinical utility, even if the test is orderedfor a single purpose (such as seeking a diagnosis of conditionwith unknown etiology). Typically, patients who undergosingle-gene genetic testing are affected or at risk for a genetic

R. Mills (*) : S. B. HagaInstitute for Genome Sciences & Policy, Duke University,304 Research Drive, North Building, Room #227, Box 90141,Durham, NC 27708, USAe-mail: r.mills@duke.edu

J Genet CounselDOI 10.1007/s10897-013-9641-z

disease. While this may be true for patients undergoinggenome-based testing, healthy individuals without family his-tory or known risk factors may also be included (Patel et al.2013). Thus, the model of traditional counseling of reactive orresponsive medicine, where genetic counseling and testing areintended to respond to a clinical problem or question may notbe applicable. Instead, a more proactive risk reduction modelwill be necessary to address genome-based disease risk re-sults, which would include careful considerations of the utilityof these results, and potentially counseling for disease preven-tion and therapeutic decision-making. Importantly, individ-uals can order genome-based testing and access their testresults without consultation with a health professional, whichmay result in a genetic counselor being called upon aftertesting to help interpret and/or communicate information fromreports from a DTC genomic test.

Typically, traditional genetic counseling for disease diag-nosis can be divided into three main steps: pretesting, deliveryof results, and follow-up. While pretest counseling will likelystill be provided to patients offered genome-based testing in aclinical setting, the advent of DTC testing essentially elimi-nates this step and consumers will make their own decisionsabout the benefits and risks of testing. The delivery of resultsand follow-up consultations will be similar in format to tradi-tional genetic counseling though substantially expanded toaccommodate the scope of genome-based testing.

With genome-based testing, particularly in the absence ofpre-test counseling, the post-test visit will likely be lengtheneddue to the scope of information to be discussed. One potentialdisadvantage of a single counseling session post-testing is thatpatients may not be adequately prepared for possible out-comes of testing and/or their perceived understanding or ex-pectations may not align with the actual result. Of particularconcern, the lack of psychological preparation for adverseresults can impede an individual’s ability to adapt to thoseresults (Middleton 2012). Even if patients do consult a geneticcounselor prior to genome-based testing, it would not befeasible to anticipate and counsel for every possible findingand clinical implications, particularly for predictive wholegenome/exome sequencing testing (Ormond et al. 2010;Sharp 2011). Indeed, the few published reports on genomiccounseling note the increased amount of time necessary forcounseling (Sturm and Manickam 2012), which may not befeasible if genome-based testing becomes more widely used.

New and Expanded Roles as Genomic Counselors

Due to the increase in information revealed about multi-factorial diseases by many genome-based tests, one importantchange for genetic counselors will be a greater role of healthpromotion and the increased time required for genomiccounseling (Biesecker 2001; Gettig 2010). Many counselors

already engage in health-promotion and prevention, so thisrole will need to be expanded to ensure coverage of all risksrevealed by genomic testing. Emerging evidence in diabetesresearch shows that diet modifications can reduce body fat forindividuals with a specific genotype (Mattei et al. 2012;McCaffery et al. 2011; Peter et al. 2012; Florez et al. 2006;Zhang et al. 2012). It is reasonable to expect that similarevidence supporting lifestyle modifications will emerge withcontinued genomic research. In a survey of DTC customers,no significant change in diet or exercise was observed amongthose that spoke with a genetic counselor to review results.However, individuals who discussed the test results with aphysician showed lower fat intake and increased exercise(Bloss et al. 2011), perhaps due to the differences in approachto care. Thus, the primary role of genetic counselors may beexpanded to not only help patients understand their geneticrisk and non-genetic factors that may affect their overall risk,but also to provide information about interventions, screeningor other recommendations to encourage uptake of these pre-ventive behaviors and reduce disease risk. Although there islittle evidence that knowledge of one’s genetic risk leads tobehavior change (Marteau et al. 2010), this may be attributedto the lack of guidance and encouragement currently providedby genetic counselors or other health providers whenconsulted.

To fulfill this new role, elements of motivational counsel-ing should be incorporated into post-test counseling visits.Motivational counseling is a patient-centered, directive meth-od of supporting patient change by focusing on the patient’smotivation to change and has been shown to be effective inimproving adherence to diet and exercise plans as well as topromoting treatment engagement, retention and adherence,and improving overall health outcomes (Hettema et al.2005). The incorporation of motivational counseling has al-ready been recommended for diseases such as Type 2 diabetesand colorectal cancer, for which genome-based testing isavailable (Pengchit et al. 2011; Waxler et al. 2012). Thoughthere has been a tradition of non-directiveness in geneticcounseling, more directive counseling may be necessary toencourage adoption of these behaviors (Waxler et al. 2012;Baker et al. 1998; O'Daniel 2010). Directive follow-up andrecommendations should occur as soon as possible after re-ceiving results to increase likelihood of behavioral modifica-tions, particularly in individuals found to be at increased risk(Heshka et al. 2008; Scheuner et al. 2008). Successful moti-vational counseling will require knowledge of patients’ base-line motivation for lifestyle changes. Markowitz et al (2011)found that less motivated patients were less likely to engage indisease prevention when given a low-genetic risk. Strength-ening a patient’s beliefs that changing behavior will reducerisk (perceived efficacy) and that the patient has the ability tochange behavior (perceived self-efficacy) is critical to makinga behavior change (Marteau and Lerman 2001).

Mills and Haga

Personalized interventions may improve outcomes withrespect to improved risk perception (Pierce et al. 2000) andbehavioral change (Amrhein et al. 2003). By emphasizing theimportance of lifestyle changes to offset the increased risk forhigh risk patients, and focusing on non-genetic factors’ con-tribution to disease risk for low risk patients – all patientswould be encouraged to consider behavior changes, regardlessof genetic risk (Waxler et al. 2012). This strategy would beimportant to balance as patients’ understanding of gene-environment contributions to complex disease, reducing pos-sibilities of underestimating risk or believing genetic to beabsolute and/or unchangeable (Haga 2009; Markowitz et al.2011; Marteau and Lerman 2001).

Preparing for Genomic Counseling Practice

The National Society of Genetic Counselors (NSGC) hasrecognized genomic medicine as a field of potential growththrough their efforts to improve counselors’ knowledge andawareness by dedicating the Annual Educational Conferenceto genomic heath in 2011 as well as establishing a SpecialInterest Group for Personalized Medicine. Currently, about1.2 % of genetic counselors surveyed in the NSGC Profes-sional Status Survey (NSGC 2012) reported specializing ingenomic medicine or personal genomics/genomic profiling.Given the expansion of genome-based testing, this number isanticipated to increase and thus, new approaches to counselingand changes to training programs will be needed to emphasizecounseling for common complex diseases, preventive health,and motivational tools to help patients adopt healthy behav-iors. It may be anticipated that genomic counselors willemerge as a new specialty of genetic counselors, similar tocounselors specializing in the prenatal, pediatric, or cancersettings. To reinforce the importance and differences associ-ated with genome-based testing and counseling, studentsshould have the opportunity to observe genomic counselingin a clinical setting. This will help ensure that future geneticcounselors will have exposure to the different practice ap-proach associated with genomic counseling. Currently, geno-mic counselors working in industry receive specialized andcontinuous training for genomic counseling, such as wasrequired by the personal genomic testing company Navigenics(Levin et al. 2012), but given the anticipated widespread use,all students should have some experience in this new field.

In addition, genetic counselors can strengthen partnershipswith other allied health professionals to develop a multi-disciplinary approach for genomic risk assessments. Geneticcounselors have a long history of working with other healthprofessionals such as speech pathologists, physical therapists,psychologists, and others, to coordinate comprehensive treat-ment for patients requiring specialized care. Such a multi-disciplinary approach could include a range of health

providers including internists, geneticists, genetic counselors,and genomic nurses (Battista et al. 2012; Chan and Ginsburg2011). Much in the way that a child with a metabolic diseasemay attend a specialty clinic and see a geneticist, a geneticcounselor, and a nutritionist in a single visit, a personalizedhealth clinic could be created to enable patients to reviewgenomic testing results with a counselor, meet with a nutri-tionist, exercise scientist, health coach, or any other healthcareprofessional that could assist with lifestyle changes or screen-ing to reduce disease risk. A qualitative survey of patientsparticipating in a personalizedmedicine collaborative reportedthat even when patients shared their genomic test results withtheir primary care provider, few physicians made lifestyle orscreening recommendations based on those results; the pa-tients believed their lack of recommendations was due to theprovider not knowing what to do with the results (Gordonet al. 2012). Indeed, many physicians have limited knowledgein genetics and genomics (Haga et al. 2012; Hofman et al.1993; Hunter et al. 1998). Genomic counselors can help fillthis gap in understanding and work with physicians and otherproviders to deliver comprehensive-based care.

Conclusion

As genetic and genomic technologies have evolved, so mustclinical practices. There is a huge potential for genetic coun-selors to define the appropriate delivery of information de-rived from genome-based tests as well as encourage the inte-gration of genomic risk information into all areas of medicine.These changes will necessitate adapting training programs andproviding professional development opportunities to increaseknowledge of genome-based testing, disease prevention andintervention options, and using a more directive counselingapproach. It is essential that the NSGC and other professionalorganizations as well as certification boards like the AmericanBoard of Genetic Counselors continue to recognize and sup-port education in this field to adequately prepare the currentand future counselors to practice genomic counseling. Withthe appropriate training and support, genomics and personal-ized medicine can become a thriving and valuable specialtyfor genetic counselors.

Acknowledgement This work was supported by the US National In-stitutes of Health (1R2HL096573-01A1).We thankMs. Jennifer Sullivanfor her thoughtful comments on previous drafts of the manuscript.

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