Dr. Blaine is assistant professor in the Department of Family and Community Medicine at the University of Toronto in Canada and researcher at the Mount Sinai Hospital Family Medicine Genetics Program in Toronto. He is also a family physician in Stratford, Canada.

Dr. Carroll is associate professor and Sydney G. Frankfort Chair in Family Medicine in the Department of Family and Community Medicine at the University of Toronto, and researcher at the Mount Sinai Hospital Family Medicine Genetics Program.

Dr. Esplen is a scientist at the National Cancer Institute of Canada (NCIC). She is also head of the program of psychosocial and psychotherapy research in cancer genetics in the Department of Psychiatry at Mount Sinai Hospital in Toronto, Canada, and assistant professor in the Departments of Psychiatry and Nursing at the University of Toronto.

Acknowledgments: Drs. Blaine and Carrol have received financial support from the Imperial Oil Charitable Foundation. Dr. Esplen received support from career scientest award granted to her from the NCIC. 



What is the role of the primary care physician (PCP) in managing patients at risk for familial cancer? The current interest, knowledge, and attitudes of both patients and physicians relating to genetics serve to highlight the importance of a key role for PCPs managing patients who may be genetically susceptible to cancer. Unfortunately, the knowledge and confidence to actively engage in genetic counseling and discussions of the psychosocial issues relating to predictive genetic testing are often lacking in primary care. The PCP’s role in cancer genetics is an extension of his/her previously established screening, risk assessment, and supportive counseling skills. Both innovative and traditional models may be applied to enable the physician’s role in the provision of primary care genetic services.


Introduction: The Challenge

The pace of discovery resulting from the Human Genome Project has accelerated our understanding of the genetic contributions to health and disease. While many hope that unraveling the inherited predispositions to disease may promote evidence-based individualized treatment and prevention strategies, others suggest that we retain a healthy skepticism regarding the promise of these new technologies.1 Some are even concerned that the results of predictive genetic testing may lead to fatalism and a sense that some diseases are uncontrollable, thus adversely affecting motivation to change.2

Regardless of the ultimate impact of genetics on medicine, primary care physicians (PCPs) will serve an increasingly important role in managing patients and families at increased genetic risk for these common diseases.3 The question is whether or not PCPs are prepared for this responsibility.4 This article will explore the challenges of integrating cancer genetics into primary care, highlight issues facing both patients and providers, and review the role of the PCP in this area with special emphasis on psychosocial issues.

Patient Interest, Knowledge, and Attitudes Regarding Genetics

A recent survey conducted by the American Medical Association (AMA) found that among Americans, if a known genetic disorder were present in the immediate family, 71% would most likely consult their PCP to learn about the possibility of inheriting the condition.5 In two surveys of women in the general population, 82% to 90% expressed interest in testing to detect a genetic susceptibility to breast cancer.6,7 In another study, only 43% of family members with BRCA1-linked hereditary breast/ovarian cancer requested results when offered genetic testing.8 More interest is expressed in genetic tests for which a proven intervention is available to either prevent or treat the disease.9 Motivations for testing include desire to reduce uncertainty about risk, participate in research, learn about risk for offspring, learn about other associated risks, explore further surveillance options, and make child-bearing and marital decisions.10

The public has a variable and in some cases extremely limited understanding of genetics. One public survey in the United Kingdom (UK) revealed that one in five people were unable to say what the terms “genetics” or “genetic information” meant to them.11 Studies have shown that patients dislike the uncertainty inherent in the probabilistic risk information associated with predictive testing and find challenges in comprehending risk information.12 There appears to be a complex interplay among the variables of perceived risk, anxiety, and surveillance behaviors. For example, women with just one first-degree relative with breast cancer may overestimate their own risk of cancer. Studies have shown that this overestimation is profound and difficult to modify and that psychological factors (eg, anxiety, feelings of loss) may impede risk comprehension and surveillance behaviors.13-16

A major public consultation11 on the future use of personal genetic information in the UK revealed broad support for the responsible use of human genetic information, especially with regard to improving diagnosis of disease, determining who is at risk of inheriting common diseases, and developing treatment for genetic disorders. However, some felt that human genetics research amounted to unethical tampering with nature. A recent survey of the Canadian public revealed that 91% felt it was acceptable to use genetic testing to determine the risk of transmitting disease to one’s children.17

In the United States, the Secretary’s Advisory Committee on Genetic Testing was chartered to advise on the medical, scientific, ethical, legal, and social issues raised by the development and use of genetic tests. Many public comments expressed concern about the potential use of genetic test results to discriminate against people in such areas as employment and health insurance. Education and counseling resources to facilitate informed decision-making regarding genetic testing were recommended.9


Knowledge and Attitudes of PCPs Regarding Genetics

Several studies have highlighted the limited knowledge of PCPs in the provision of genetic services in clinical practice.3,18-20 Most physicians agree that they have a role to play in genetic susceptibility screening, but also have concerns including the cost of testing, testing for diseases for which there is no effective treatment, the use of genetic tests by insurance companies, and the challenge of communicating risk to patients.21 Physicians have expressed a reluctance to adopt genetic tests because of questionable clinical validity and utility, and perceive a more practical importance of these tests in the future rather than in the present.22 They are concerned about alarming their patients, the majority of whom will see no health gain from genetic testing.23


Psychosocial Issues Associated With Having a Family History of Cancer

Individuals with a family history of cancer frequently believe that they are at high risk for the disease, even when that may not be the case. Elevated risk perceptions are often associated with high levels of psychosocial distress or anxiety.13-15 Individuals who experience elevated risk perceptions feel vulnerable to cancer and often suffer intrusive thoughts about the disease threat.13,15 They may not be reassured by the provision of a negative test result or with accurate risk information. These individuals often require psychosocial interventions to address associated psychological factors, such as previous losses or caregiving experiences around a family member’s cancer.14,16

The interplay between perceived risk and anxiety is important in considering disease-screening behaviors. Studies on surveillance indicate that a minimum level of distress and anxiety is necessary for attendance to a screening program, but if anxiety exceeds a certain level it can have a negative influence on surveillance adherence.13,15 Some individuals feeling a threat of disease may adopt a denial coping strategy, resulting in noncompliance or delay.24,25 Similarly, levels of anxiety and concern influence the adoption of lifestyle changes and other health behaviors. Hypervigilance in the form of seeking out additional health information to alleviate concerns about risk is a common response to elevated risk perception.26 Factors in the literature that have been identified to be associated with an overestimation of risk and distress include having a family history of disease, beliefs about the disease and risks, lower educational level (specifically being uninformed about genetics and disease), prior loss of a family member to cancer, identification with a family member, and media attention surrounding cancer risk.13,14,16,27-29

Risk information contains probabilities and doubts that may lead to confusion. In addition, genetic information can be an existential threat to the individual and his/her family members. Risk information can not only arouse fears about developing the disease, but feelings of anger towards those who transmitted the disease and guilt about the potential transmission of the genes to offspring.24 Such reactions have potential for influencing the person’s well-being and relationships with family members, which in turn can interfere with the process of notification of a genetic mutation to family members who may be at risk.30

Individuals pursuing genetic testing in cancer are often confronted with additional difficult decisions. Any test result that brings forward serious and difficult decisional options can pose additional psychological burden. Examples include decision-making around current prevention and treatment options (eg, increased surveillance, prophylactic surgery, chemoprevention), test result notification to extended family members and offspring, and relationship decisions (eg, marriage, childbearing).25

Relationships among siblings, parents, offspring, and partners can be complicated by the pursuit of genetic testing and results. For example, some individuals found not to carry a known gene mutation in the family may experience “survivor guilt” and feelings of rejection by their families when they find that they no longer have a key bond that previously tied them together.24,25 Sometimes families attempt to protect a family member through nondisclosure of familial cancer information, which can pose difficult and challenging ethical dilemmas for a PCP managing the health care of different family members.

The literature is beginning to pinpoint factors that may be helpful in identifying the group of individuals who may have more difficulty in the genetic and risk counseling process. These include previous familial experience of the disease, the amount of loss in the family, perceived current threat to the individual, proximity in age to the time of diagnosis of a relative who previously dealt with the disease, the expectation of receiving an unfavorable result, the amount of social support and coping style (anxious preoccupied style), and a premorbid psychological history.13,25,29,31,32

Recent studies indicate that 20% to 25% of individuals eligible for genetic testing experience distress in the clinical ranges for depression and anxiety.33-35 Baseline distress is highly predictive of post-test adjustment,33-35 suggesting the need for psychosocial screening at the time of pretest.


The Evolving Role of PCPs in Cancer Genetics

Media hype and direct marketing of genetic tests will likely increase awareness of the significance of a family history of cancer among the public. PCPs will therefore have a vital role in educating their patients about the genetic risk of cancer, often to reassure those at low risk for whom genetic testing is not warranted. Such counseling can readily be provided within the existing framework of primary care and need not require specialized skills.36 The problem is that only 5% to 10% of all breast, ovarian, and colorectal cancers are considered inheritable, with little evidence for risk-reduction strategies. Genetic risk information has yet to change behavior any more than nongenetic information.37 For these reasons, some have argued that routine family history screening of symptom-free patients to document cancer does not meet the criteria for a screening test.38

PCPs cannot be expected to take on the expert role of a clinical geneticist, but rather they should incorporate key elements of genetics into everyday primary care practice.36 Greater awareness of the potential impact of genetics in primary care may allow PCPs to more consistently recognize clues to a genetic condition, use the family history to perform a genetic risk assessment, identify those at increased psychosocial risk related to their genetic history, provide or refer the patient for psychosocial support, and ultimately facilitate informed choice regarding subsequent health decisions (Table).


Taking a Family History

PCPs have many opportunities to ask about family history: new patient encounters, periodic health examinations, and even during episodic visits for those who rarely frequent the clinic. A recent study using direct observation of patient visits found that family physicians discussed family history during only half of new patient visits.39 PCPs should be aware of the potential limitations of family history information as reported by patients, such as use of incorrect or lay terminology, uncertainty regarding the type of primary cancer affecting a relative, and age at diagnosis.

Although a three-generation family history or pedigree may be ideal, simple tools may assist clinicians in capturing important elements of a cancer family history. Computerized patient-administered family history-taking tools have been developed; they are currently being evaluated and may facilitate the task of systematically organizing this information.40,41

Genetic Risk Assessment

Once a family history of cancer has been identified, risk assessment tools and/or guidelines may be used to identify patients at increased risk for the disease. For some of these cases, genetic testing will distinguish between the family members truly at high risk (carriers, positive for a known family mutation) who may benefit from increased surveillance or prevention strategies versus those family members at low risk (negative for a known family mutation), who may revert to population-based screening recommendations despite their alarming family history.42 PCPs need to recognize the patients who may benefit from specialized genetics services43 as well as those patients whom they feel can manage themselves. The more common role for the PCP will likely be to provide reassurance, counseling, and support to patients with low-risk cancer family histories—situations where referral and testing are not indicated.

Counseling About Genetic Testing

In some situations, counseling may only entail the provision of basic genetics information to help with informed decision-making.43 In other situations, these discussions may be followed by referral to genetics clinics44 and/or involve psychosocial counseling to address any psychological concerns and symptoms. Benefits of genetic testing include reassurance for those found to be negative for a cancer susceptibility gene mutation or, if testing is positive, the opportunity for increased surveillance or prophylactic treatment or surgery.

Risks of knowing genetic information, particularly a positive genetic test for cancer susceptibility, are numerous. Concerns have been raised about privacy and discrimination issues related to employment and insurance. A recent systematic review31 of the psychological consequences of predictive genetic testing reported that the majority of both carriers and noncarriers showed decreased distress after testing. However, a significant number of individuals do experience difficulty in adjusting to their test results. Pretest emotional state was predictive of subsequent distress, suggesting that individuals at psychological risk undergoing genetic testing be identified beforehand so that post-test supportive care can be targeted at those in need.31

Not all carriers will develop cancer, but if they do, the age of onset is unknown. This uncertainty may lead to fear or anxiety. Some family members may not want to know about their risk and this can pose challenges to family dynamics. Carriers may feel guilty for passing on a genetic mutation to children, which ultimately may impact on family relationships. When such psychological factors are identified, psychosocial counseling or a mental health referral may be required. Those who test negative for the family’s mutation may experience “survivor guilt.”44

Offering Genetics Referral

Patients assessed as being at high risk for hereditary cancer by their PCP should be offered referral to a genetics center or familial cancer clinic for further counseling and consideration of genetic testing. Patients must understand that a genetics referral does not necessarily imply that genetic testing will be offered after further details of the family history are obtained. Some patients may not meet high-risk referral criteria and yet still have a cancer family history that is clearly not low risk. Although perhaps not eligible for genetic testing, such moderate risk patients may still be offered referral to a genetics center for further information and/or to a mental health specialist for counseling depending on the nature and severity of their distress. PCPs may help prepare referred patients by explaining the genetics consultation process and the role that specific psychological issues may play in decisions for themselves and their families.

Treatment and Surveillance

At present, recommendations for the treatment and surveillance of carriers of cancer susceptibility genes are based mainly on expert opinion. PCPs, with the help of genetic specialist colleagues, will need to discuss treatment and management options with these patients. They can assist patients in making informed choices based on available information, family concerns, and psychosocial health. This is a most challenging task given the variability of evidence for surveillance recommendations, chemoprevention, and prophylactic surgery. Uncertainty and potential costs and side effects associated with preventive options can result in added psychological burden. For example, while women at high risk for breast and ovarian cancer are strongly motivated to take action to reduce their risk and may consider prophylactic surgery, they must weigh these decisions against the consequences of surgery, such as premature menopause. These can be challenging decisions for women who are currently healthy.

Long-Term Care

PCPs often provide continuity of care to patients and families for a comprehensive range of health services over many years. Patients and their families found to be at high risk for familial cancer may return to consult the same provider long after a genetic risk was first identified. Whether or not these individuals underwent genetic testing or even received informative test results, they will no doubt require ongoing routine medical care, with special attention drawn to the psychosocial impact of their known familial cancer susceptibility. In addition, challenges can occur around family dynamics (eg, disclosure). Individuals sometimes try to protect others in the family from worrying about a cancer risk through nondisclosure. They also grapple with the question of when and how to tell offspring about risk.45 These patients will require counseling regarding newly discovered clinically-relevant predictive, diagnostic, and/or therapeutic technologies that may impact upon their previously assigned genetic predisposition. PCPs can be supportive in assisting other family members to consider testing, by providing disclosure plans, and treatment options.

Meeting the Challenge

Will PCPs be able to fill the following roles: taking a comprehensive family history, genetic risk assessment, provision of genetics information, appropriate genetics referral, genetic testing, assessing and managing psychosocial issues, and formulating and coordinating individualized management plans? Some have expressed concern that PCPs may be too directive in their counseling21,46 and may lack the knowledge and skills required.43,47 Others cite time, money, and legal and ethical concerns as barriers to primary care involvement in genetics.47 However, direct marketing pressures and media hype may make PCPs the initial point of contact for many patients seeking information about genetic testing and inherited cancers.48 Some argue that PCPs are ideally suited to guide their patients through the decision-making process of genetic assessment and testing44 while at the same time addressing psychological and social issues. Such a role is indeed an extension of the well-established experience of PCPs in screening and risk assessment in primary care.36

Enabling a Role for PCPs in Cancer Genetics

Awareness of the potential scope and limitations of genetic technologies is necessary if PCPs are to become more involved in the delivery of genetic services. Several groups have developed comprehensive core competencies of genetics education for health professionals.49 These guidelines may assist health disciplines in modifying genetics curricula and create providers competent in genetics service delivery at the primary care level.

Innovative educational strategies must target PCPs currently in active practice as well as those in training programs. In the US, Genetics in Primary Care (GPC): A Faculty Development Initiative targets family medicine, general internal medicine, and general pediatrics to plan, implement, and evaluate outcomes of primary care training programs in genetics.50 Both traditional and creative models may help to translate relevant genetic knowledge into practical applications for primary care. Efficient, organized, clear, and simple protocols to obtain, evaluate, and act on family history information will need to be developed to take advantage of this powerful clinical tool.39 Linking PCPs with clinical genetics nurse specialists may facilitate the screening of genetic problems in primary care settings.51 Collaborative practice-based research networks may be used to foster PCP involvement in clinical research on genetic tests, perhaps even serving as an educational outlet for some of these clinicians.22 Even simple interventions, such as providing general practitioners with a written information pack on inherited cancer, have been shown to significantly improve referral decisions regarding patients with a positive family history.52 The development of psychological screening tools to assist PCPs in identifying those at psychological risk may be helpful. In addition, linkages and communication with mental health resources to promote further integration of supportive care may be required. Innovative models such as “Shared Care,”53 which involves a consultation-liaison kind of partnership between PCPs and psychiatrists/psychologists, may be helpful to provide consultation and support to PCPs. Regardless of the model, the need for effective partnership between genetics experts and the general public is critical if improved education, information transfer, and community building is to flourish.54


PCPs play an important and evolving role in the management and psychosocial support of patients with a family history of cancer. They must be prepared to engage patients in discussions of predictive genetic testing for cancer susceptibility. This includes taking a comprehensive family history, genetic risk assessment, provision of genetics information, appropriate referral for genetics consultation or genetic testing, and formulating and coordinating individualized management plans. PCPs possess much of the necessary knowledge, skills, and attitudes needed to manage and support patients at increased genetic risk for cancer. Both traditional and innovative strategies may further establish the integration of genetics into primary care practice.   PP


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