Introduction

Ontario Genetic Counselors and Health Professions Regulation

Genetic counseling is defined as the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease … and counseling to promote informed choices and adaptation to the risk or condition (Hooker et al. 2014; Ormond 2013; Resta et al. 2006). There are currently an estimated 167 individuals who practice genetic counseling in Ontario (personal communication). They provide service to a population of 13.8 million people (Canada 2015). Historically, genetic counselors worked as team members in medical genetics clinics with medical geneticists providing clinical oversight. There is a clearly defined Canadian entry-to-practice route (CAGC 2012b, c) which includes completion of a Master of Science Degree in Genetic Counseling at an accredited training program, certification exam and maintenance of certification. Although many Canadian hiring institutions favor board-certified or board eligible genetic counselors, there is no requirement at a provincial level to become certified or demonstrate maintenance of certification (Somerville and Allingham-Hawkins 2010).

In Canada, health professions that are considered to pose a significant risk for public harm can become regulated via a legislative process. Becoming regulated serves to increase that profession’s accountability to the public by offering a formal complaint and disciplinary process. It also protects that profession’s title (criminalizes its unauthorized use) and may allow that profession to perform specific controlled acts (such as communicating a diagnosis or ordering a test). Akin to American licensure, which occurs at the state level, health care regulation laws are passed at the provincial level in Canada. There are currently 26 regulated health professions in Ontario (O. MOHLTC 2016). To date, no province in Canada has formed a regulatory body for genetic counselors. Some genetic counselors do, however, have medical delegation (a direct order from a responsible physician to perform a controlled medical act for a specific patient) and/or medical directives (a “blanket order” in writing from the responsible physician to perform a controlled act for a clearly defined patient-population) at the institutional level (C. o. P. a. S. o. Ontario 1999). An informal survey by the authors revealed that as of 2015, there is great variability within and between the 8 Ontario genetics centers with respect to medical directives for genetic counselors. This variability ranges between having no directives at all to having medical directives for clearly defined patient populations.

In 1991, the Ontario Government introduced the Regulated Health Professions Act (G. o. Ontario 1991). The purpose of the Act, which is akin to the concept of licensure of healthcare professionals in the U.S., is to address issues of public protection by: restricting which health professionals may perform hazardous acts; prohibiting unregulated practitioners from providing treatment or advice when harm to the patient/client may result; restricting the use of professional titles/designations and providing a mechanism for public accountability (Frelick and McFadden 2009; Rosen and Sunshine 2010). An amendment to this act in 2006 expanded the definition of harm to include mental as well as physical harm (Rosen and Sunshine 2010 (Rosen and Sunshine 2010). A Provincial Health Professions Regulatory Advisory Council (HPRAC) has set out both primary and secondary criteria to assess whether a given health profession meets a risk of harm threshold to be considered for regulation (Table 1) (HPRAC 2011). The primary criterion (which focuses on the potential risk for harm to patients) must be met in order to fulfill the requirements for regulation (Table 1).

Table 1 MOHLTC (HPRAC) criteria for evaluating new health professions for regulation (HPRAC 2011)
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A recent expansion of the definition of risk of harm to include mental harm further compels Ontario genetic counselors to investigate the need for regulation, given that a major component of the genetic counselor’s role is to provide short-term, client-centered counseling and psychological support and assist families with difficult, sometimes life-altering decisions (Austin et al. 2014; Cameron and Muller 2009; Hooker et al. 2014; Horowitz et al. 2001; Martin et al. 2010; Ormond 2013; Powell et al. 2010; Resta 2006; Swanson et al. 2014; Weil 2002).

A similar concept of harm has emerged from several American state legislative reviews (also called sunrise reviews) which evaluate the appropriateness of licensure for genetic counselors. One such review has defined specific examples and categories of potential harm relevant to genetic counseling practice. These include but are not limited to incorrect test interpretation, inadequate training and title misuse (Table 2) (State of Colorado 2013).

Table 2 DORA categories of potential harm to the public in genetic counseling practice (State of Colorado 2013)
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Changing Trends in Canadian Healthcare and Genomic Medicine

The recent shift towards genomic medicine and direct-to-consumer marketing of genomic testing has led to an enormous increase in the number of conditions included in testing, the number of positive and uncertain results, the time required by clinicians to interpret those results and the demand for genetic counseling services (Featherstone et al. 2007; Gordon et al. 2012; Green et al. 2011; Guttmacher et al. 2010; McGowan et al. 2013; Mills and Haga 2014; Ormond 2013; Zierhut and Austin 2011).

With the advent of new genetic technologies, genetic counselors are expanding their roles to provide interpretation and counseling regarding the significance of complex genomic data and possible related health risks (Christian et al. 2012; Clarke and Thirlaway 2011a, b; Machini et al. 2014; Mills and Haga 2014; O’Daniel 2010; Radford et al. 2014; Vig and Wang 2012; Zetzsche et al. 2014). Genetic counselors are being called upon to interpret variants of uncertain significance, to counsel about health risk management strategies, pharmaco-genomic implications and training non-genetics health care providers to provide genetics risk assessment and counseling. Although there is limited data available specific to the Canadian genetic counselling workforce, the literature predicts a future shortage of qualified genetic counselors due to expanded roles and increased demand for genetic testing and counselling (Andermann and Narod 2002; Botkin et al. 2015; Eisenstein 2015; Hawkins and Hayden 2011; Ontario 2008; Vanstone et al. 2012).

The pressure on primary care providers and non-genetics specialists to expand their role in genetic risk assessment and counseling is increasing, despite insufficient training and education (Andermann and Blancquaert 2010; Bensend et al. 2014; Carroll et al. 2009; Egalite et al. 2014; Houwink et al. 2012; Korf et al. 2014; Mendes et al. 2011; Shields et al. 2008; Vanstone et al. 2012; Zhou et al. 2014). It is not surprising then, that increasing numbers of genetic counselors have been hired to work in a variety of non-genetic clinical settings with non-geneticist physicians (Andermann and Narod 2002; Ingles et al. 2011; Matloff and Barnett 2011; Mendes et al. 2011; Powell et al. 2010; Somers et al. 2014; Swanson et al. 2014; Vanstone et al. 2012). A recent Canadian Association of Genetic Counseling professional status survey revealed that 15 % of respondents work with non-geneticist physicians or with no physicians (CAGC 2012a). In these settings, genetic counselors are deferred to as the genetic expert despite not being a part of a regulated profession with adequate malpractice insurance. The genetic counselor may assume a primary role in choosing the most appropriate testing option, interpreting and communicating genetic test results, communicating complex information to the patient and providing psychosocial counseling and support (McCabe et al. 2001; O. M. o. H. a. L. T. C. MOHLTC 2002). Now that genetic counselors are assuming more independent, comprehensive and widespread roles in the delivery of health care services to the public, exploring the need for regulation is timely. However, to date, no study has systematically examined the actual scope of practice of Canadian genetic counselors or its associated potential risk for harm.

Purpose and Significance

To evaluate whether current genetic counseling practices in Ontario meet the primary HPRAC criteria for risk of harm, by looking at the clinical practice patterns of genetic counselors and their perceptions of the potential for mental and physical harm to their patients. Results from this study will guide future discussions regarding public accountability, title protection and regulation for Ontario genetic counselors and could be extrapolated to genetic counselors in other Canadian provinces.

Methods

Survey Design

The survey was developed and designed in accordance with the principles of Dillman’s Tailored Survey method (Dillman 2007). Questions were based on the primary and secondary criteria set out by HPRAC and were designed to assess potential risk to the public by

  1. 1)

    Describing the professional activities that call upon judgment or decision-making

  2. 2)

    Exploring genetic counselors’ perceptions and experiences regarding potential and actual risk to their patients.

  3. 3)

    Measuring levels of professional autonomy by evaluating

  1. a)

    Medical delegation patterns

  2. b)

    Independence levels in direct patient interactions

  3. c)

    Documentation practices with respect to signing requisitions and consultation summaries

Questions to ascertain demographic attributes, global practice patterns and clinical scope of practice were also included. Survey questions were then tested on a pilot group of Canadian genetic counselors from outside Ontario and further refined based on feedback and question performance. A formal scientific peer review of the study design was conducted and ethics approval was obtained through The Hospital for Sick Children Research Ethics Board.

Participant Recruitment

We chose to recruit participants who work in the province of Ontario, as it contains the largest workforce of genetic counselors among all Canadian Provinces and Territories. Research participants were identified through the Canadian Association of Genetic Counselors (CAGC) and the National Society of Genetic Counselors (NSGC) directories, as well as direct contact with all known facilities in Ontario that provide genetic counseling services (including regional genetics centers, private medical clinics, public health units, tertiary care centers and mental health facilities). Given the lack of title protection in Ontario, a “genetic counselor” was defined as an individual who is a non-physician health care provider whose primary role is to provide genetic counseling services. All identifiable genetic counselors in Ontario were personally invited to participate in the study, both by mail and email invitations. Inclusion criteria included health professionals who were hired by their institution to provide genetic counseling services for at least part of their role. Participants who, at the time of recruitment, had been on leave of practice for more than 2 years were excluded from the study.

Data Collection and Analysis

Data were collected via a web-based survey system. Descriptive and comparative statistical analyses included Fisher’s exact and t-tests to look for significant differences in measures between groups and subgroups. Participants were asked to respond to questions about demographic and training background, certification status, practice setting, specific clinical roles and activities, autonomy of practice and personal perceptions regarding risk of harm posed by their practice. They were asked to rate their level of independence for specific types of genetic counseling encounters, (with a “high-level” rating indicating a minimal level of medical oversight by the responsible physician), and to describe their documentation practices (signing testing requisitions and writing consultation summaries). We also invited them to share their personal anecdotes of risk for harm in genetic counselling practice.

Results

Response Rate

There were 120 Ontario genetic counselors that met inclusion criteria and were invited to participate. There was a 75 % response rate (N = 90), with a complete response rate of 65 % (N = 78), and a partial response rate of 10 % (N = 12).

Demographic Features and Practice Settings

All demographic and practice setting data are presented in Table 3. “Genetic Counselor” was the most commonly reported job title. The most frequent academic background reported was Master of Science degree in genetic counseling via an accredited training program. Certification by a recognized body was reported by the majority of the participants. Of those who were board-eligible with no plan to become certified (N = 18), the reasons given in order of frequency were “it did not impact employment”, “personal reasons” and “financial constraints”. The majority of participants reported a hospital medical genetics setting as at least one of their practice settings. The average estimated face-to-face patient encounters per month was 30.6 (range 5–90, median 27.5) (Table 4). Over ¼ of respondents (26 %) reported being employed exclusively in a specialized role (such as adult, cancer or prenatal genetics) and 16.5 % reported their professional practice to be limited exclusively to cancer genetics.

Table 3 Participant demographics and practice settings (N = 90)
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Table 4 Genetic counselor roles and activities
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Professional Activities Requiring Clinical Judgment / Decision-Making

The scope of genetic counselor roles and activities is summarized in Table 4. The vast majority of participants (92.9 %) reported that greater than half of their role is allocated to direct patient care activities. Direct patient care activities requiring clinical judgment and decision-making included face-to-face consultations for a wide variety of clinical indications, ordering and interpreting genetic tests and providing health surveillance recommendations. Involvement in indirect patient care activities requiring clinical judgment ranged from 27 % to 97.7 % and included consulting to health professionals to provide information about genetic testing options, patient referral and screening recommendations and DNA test result interpretation.

Perceptions of Risk for Patient Harm and Attitudes toward Regulation

Over half of participants (52 %) agreed or strongly agreed that there “currently exists a significant risk to cause emotional or psychological harm to patients in the practice of genetic counseling”. A minority of participants (12 %) reported having actually observed a few instances of harm.

A majority of participants agreed or strongly agreed that the policies, medical directives or delegated medical functions in place at their institutions are inadequate to protect their patients from harm (51 %) or themselves from medico-legal risk (52 %).

The frequency with which respondents observed a risk-for-harm scenario in at least a few instances ranged from 8.4 % to 37.3 %, for each case-type presented (Table 5).

Table 5 Risk-of-harm scenarios and attitudes toward regulation
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Personal anecdotal observations of risk for harm in genetic counseling practice reported by participants were placed in one of five categories of harm as outlined by the DORA Sunrise Review (State of Colorado 2013). There were three observations reported by participants that described incidents of actual harm to patients (Table 6).

Table 6 Risk for harm in genetic counseling practice - anecdotal observations shared by subjects (sorted according to DORA categories) (State of Colorado 2013)
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Only a minority of respondents agreed that the current level of medical oversight they receive for their practice was inadequate and that this inadequacy could or actually did lead to patient harm (Table 7). However, over half the participants believed that their workplace policies and/or medical directives were not adequate to protect patients from harm. Overall, respondents showed support for regulation, with a majority reporting high likelihood to comply with regulations set out by a putative regulatory college, and agreement that regulation would promote a safer and more effective delivery of genetic counseling services (Table 5). A portion of respondents, however, did indicate they did not have enough knowledge to be able to agree or disagree with statements regarding support of regulation.

Table 7 Clinical oversight for controlled acts performed by the genetic counselor
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Autonomy of Practice

Autonomy of practice was assessed by three measures: medical delegation patterns, independence of practice in direct patient interactions and documentation practices.

Medical Delegation Patterns

The majority (84.1 %) of Ontario genetic counselors receive at least some of their medical delegation from a clinical or metabolic geneticist. Participants reported receiving medical delegation from a variety of physicians who specialize in other areas of medicine as well. Receiving medical delegation solely from a non-geneticist physician was reported by 14 (15.9 %, N = 88) of the participants (Table 7), all of whom reported direct patient care for part or all of their roles. Those non-geneticist physicians were reported to be specialists in oncology, surgery, gastroenterology, ophthalmology, pediatrics, respirology, hematology and laboratory medicine. Participants whose practice was exclusively limited to cancer genetic counseling (n = 15) were significantly less likely to receive their medical directives from a medical geneticist (40 % vs. 92 %, p < <0.0001).

Independence in Direct Patient Interactions

For prenatal cases, high-independence rates ranged from 18 % (genetic counseling regarding a fetal ultrasound abnormality) to 97 % (genetic counseling regarding aneuploidy risk). For general genetic counseling cases, high-independence rates ranged from 21 % (genetic counseling regarding an unbalanced chromosome rearrangement) to 74 % (genetic counseling regarding consanguinity risks). For cancer cases, high-independence rates ranged from 35 % (counseling for cancer-related health management/screening recommendations) to 79 % (genetic counseling regarding a negative DNA test result for a patient with a prior diagnosis of cancer) (Table 8).

Table 8 Self-reported high-level independence cases for subjects by case-type and category
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Documentation Practices

All participants reported routinely signing at least one requisition type listed by our study on behalf of the responsible physician (100 %, n = 85). The frequency of signing requisitions on the responsible physician’s behalf, ranged from 55.9 % for diagnostic DNA testing to 89.6 % for prenatal diagnostic procedures. The most common reasons given for genetic counselors signing the requisitions on behalf of the responsible physician were: better efficiency/more timely (73 %) and unavailability of the responsible physician (68 %) at the time of the patient encounter. Participants reported a high frequency of writing consultation summaries for their patient encounters; the majority (90 %) obtain co-signature from the responsible physician.

Cancer Genetic Counselors

Of interest, a subgroup that stood out in our analysis was the cohort of genetic counselors who specialize in cancer genetics. Fifteen (16.7 %) of the 90 participants were identified as having an exclusive role of cancer genetic counseling. Segmentation analysis revealed that this subgroup demonstrated significant difference in their practice and attitudes compared to the rest of the study group. They were more likely to have been trained by an ABGC accredited institution (86 % vs. 64 %, p = 0.04) and were more likely to report an Oncology Clinic as their work setting (40 % vs. 3 %, p = 0.0002).

Exclusive cancer genetic counselors were significantly more likely to practice with high autonomy when communicating a positive DNA result in a patient with a previous diagnosis of cancer (60 % vs. 30 %, p = 0.02). In fact, exclusive cancer genetic counselors practiced with greater autonomy across all cancer cases presented (approaching statistical significance), indicating a trend towards greater autonomy in this sector.

Exclusive cancer genetic counselors were significantly less likely than other participants to receive medical directives from a medical geneticist (40 % vs. 92 %, p < 0.002) and significantly more likely to receive directives from an oncologist or surgeon (p = 0.0004 and p = 0.01, respectively). Exclusive cancer genetic counselors were less likely than other participants to receive at least some of their directives from a medical geneticist (40 % vs. 94 %, p < <0.01).

Discussion

Our study demonstrates that most (67.8 %, N = 90) Ontario genetic counselors have a clearly defined entry to practice (via accredited Master’s degree training programs), and significant involvement in direct patient care activities. They typically perform their duties with high levels of independence with respect to clinical judgment and decision-making, patient care, test ordering and interpretation and case management activities. There appears to be a tendency for case-types with a higher potential for abnormal or medically actionable outcomes to be associated with lower rates of high-level independence. For example, genetic counselling for a negative carrier test or for consanguinity (where the outcome is unlikely to be abnormal) was associated with high-level independence rates of 78.9 % and 74.2 % respectively. Conversely, genetic counselling for a fetal ultrasound abnormality or a positive DNA result for a predictive test was associated with high-level independence rates that were lower (17.8 % and 19.7 % respectively) (Table 8).

Ontario genetic counselors also have significant roles in consulting to other health care providers about the interpretation and implications of genetic test results, evidencing their expertise and potential value to inter-professional practice beyond direct patient care activities.

A minority of genetic counselors (15.9 %, N = 88) reported working in non-medical genetics settings, where they have limited or no access to a medical geneticist for supervision or consultation. In these cases, the genetic counselor may be the only health professional with formal medical genetics training, and thus be relied upon to guide colleagues in test choice and interpretation. This level of autonomy may increase the potential risk for public harm. As a means of ensuring that only highly qualified individuals are permitted to provide genetic counseling with this high level of autonomy, tighter controls (via regulation or other accountability measures) should be considered.

Cancer genetic counselors represent one of the first examples of sub-specialization of the genetic counseling field. Cancer genetic counselors (and other expert genetic counselor specialists) are likely to act as the genetics experts in their clinical settings, and may be more likely to be relied upon to interpret results, consult to other health professionals, execute genetic testing and communicate positive results to patients. The fact that cancer genetic counselors were significantly more likely to be ABGC-trained, and reported higher levels of practice autonomy may be a reflection of the value that non-genetics-trained physicians place on accredited training routes to practice entry, and the unique skill set and knowledge gained from such graduate education programs.

Ontario genetic counselors also perceive that there are potential risks for both psychological and physical harm to patients, intrinsic to their practice, as evidenced by subjective measures of hypothetical case scenarios and anecdotal reports. Given the relatively low frequency with which each scenario was reported to have been observed, and the very few true incidents actually reported, the potential risk for harm appears to be greater than any realized risk to date. The majority of Ontario genetic counselors also appear to be supportive of regulation of the profession.

Study Limitations

A concerted effort was made to identify and invite the participation of all genetic counselors in Ontario. However the researchers were required to use a loose definition of genetic counselor, given the diverse training and backgrounds of individuals in Ontario who provide genetic counseling services. This may have contributed to unintended inclusion or exclusion of some participants. The data generated from this study should be interpreted with caution, and are subject to response and ascertainment biases that are often inherent to this research modality. Most responses relied heavily on participant recollection and subjective estimates. At the time the survey was administered, whole exome sequencing and next generation sequencing panels were not standard of care. Thus we were unable to accurately measure clinical practices related to counseling for and interpreting variants of uncertain clinical significance. Finally, although Ontario may be thought of as a paradigm for medical genetics practice in other Canadian provinces, we may not be able to generalize all of our results, given the provincial-based health care and legislation for professional regulation in our country (similar to the U.S. state-based licensure).

Practice Implications

Genetic counselors are growing as a professional body at a rapid rate. Many are migrating from traditional medical genetics team practices towards specialty practices (including commercial laboratories) and functioning with high levels of independence. As this trend continues and the demand for and availability of genetic testing continues to grow, so will the need for trained genetic counselors who can work as genetics experts in non-traditional settings. The demand for trained genetic counselors currently outweighs the number of new graduates available for hire. The risk is that without title protection or public accountability measures, unqualified individuals may be hired to provide genetic counseling services. Given that there is a risk of harm inherent to our practice, considering the feasibility of regulation or other accountability and title protection measures is incumbent upon us. A dialogue with policy makers and other stakeholders to explore accountability measures as a means to ensure that genetic counseling is provided only by appropriately trained professionals is timely.

Research Recommendations

With evidence that genetic counseling practice within Canada poses a risk for harm, it would be important to assess such risks, as they relate to the role of genetic counselors in the era of genomic and personalized/precision medicine. Looking at the current barriers to hiring qualified genetic counselors in Canada may help to identify opportunities in the system to promote safe patient care. Assessing the public’s experiences with genetic counseling services in the province may uncover vulnerabilities with respect to potential harm. Finally, better-quantifying Canadian genetic counselors’ understanding of and support for professional regulation will help guide efforts to improve accountability in the profession.

Conclusion

The practice trends that we have elucidated support further investigation into the need and feasibility of professional regulation of Ontario genetic counselors. This will ensure the continued provision of high-quality, safe and accessible genetic counseling services for patients, families and as well as expert and accurate input for non-geneticist health care providers. It will also pave the way for genetic counselors to integrate into new inter-professional healthcare teams in order to respond effectively to the anticipated future demands of genomic medicine.