Multigene expression profile testing in breast cancer: is there a role for family physicians?

BACKGROUND: Family physicians (fps) play a role in aspects of personalized medicine in cancer, including assessment of increased risk because of family history. Little is known about the potential role of fps in supporting cancer patients who undergo tumour gene expression profile (gep) testing. METHODS: We conducted a mixed-methods study with qualitative and quantitative components. Qualitative data from focus groups and interviews with fps and cancer specialists about the role of fps in breast cancer gep testing were obtained during studies conducted within the pan-Canadian canimpact research program. We determined the number of visits by breast cancer patients to a fp between the first medical oncology visit and the start of chemotherapy, a period when patients might be considering results of gep testing. RESULTS: The fps and cancer specialists felt that ordering gep tests and explaining the results was the role of the oncologist. A new fp role was identified relating to the fp-patient relationship: supporting patients in making adjuvant therapy decisions informed by gep tests by considering the patient's comorbid conditions, social situation, and preferences. Lack of fp knowledge and resources, and challenges in fp-oncologist communication were seen as significant barriers to that role. Between 28% and 38% of patients visited a fp between the first oncology visit and the start of chemotherapy. CONCLUSIONS: Our findings suggest an emerging role for fps in supporting patients who are making adjuvant treatment decisions after receiving the results of gep testing. For success in this new role, education and point-of-care tools, together with more effective communication strategies between fps and oncologists, are needed.

Public attitudes towards genomic risk profiling as a component of routine population screening.

Including low penetrance genomic variants in population-based screening might enable personalization of screening intensity and follow up. The application of genomics in this way requires formal evaluation. Even if clinically beneficial, uptake would still depend on the attitudes of target populations. We developed a deliberative workshop on two hypothetical applications (in colorectal cancer and newborn screening) in which we applied stepped, neutrally-framed, information sets. Data were collected using nonparticipant observation, free-text comments by individual participants, and a structured survey. Qualitative data were transcribed and analyzed using thematic content analysis. Eight workshops were conducted with 170 individuals (120 colorectal cancer screening and 50 newborn screening for type 1 diabetes). The use of information sets promoted informed deliberation. In both contexts, attitudes appeared to be heavily informed by assessments of the likely validity of the test results and its personal and health care utility. Perceived benefits included the potential for early intervention, prevention, and closer monitoring while concerns related to costs, education needs regarding the probabilistic nature of risk, the potential for worry, and control of access to personal genomic information. Differences between the colorectal cancer and newborn screening groups appeared to reflect different assessments of potential personal utility, particularly regarding prevention.

Identifying mental health services in clinical genetic settings.

The purpose of this study was to examine the mental health needs of individuals at risk for adult onset hereditary disorder (AOHD) from the perspective of their genetic service providers, as it is unknown to what extent psychosocial services are required and being met. A mail-out survey was sent to 281 providers on the membership lists of the Canadian Association of Genetic Counsellors and the Canadian College of Medical Geneticists. The survey assessed psychosocial issues that were most commonly observed by geneticists, genetic counsellors (GCs), and nurses as well as availability and types of psychosocial services offered. Of the 129 respondents, half of genetic service providers reported observing signs of depression and anxiety, while 44% noted patients' concerns regarding relationships with family and friends. In terms of providing counselling to patients, as the level of psychological risk increased, confidence in dealing with these issues decreased. In addition, significantly more GCs reported that further training in psychosocial issues would be most beneficial to them if resources were available. As a feature of patient care, it is recommended that gene-based predictive testing include an integrative model of psychosocial services as well as training for genetic service providers in specific areas of AOHD mental health.

Clinical obligations and public health programmes: healthcare provider reasoning about managing the incidental results of newborn screening.

BACKGROUND: Expanded newborn screening generates incidental results, notably carrier results. Yet newborn screening programmes typically restrict parental choice regarding receipt of this non-health serving genetic information. Healthcare providers play a key role in educating families or caring for screened infants and have strong beliefs about the management of incidental results. METHODS: To inform policy on disclosure of infant sickle cell disorder (SCD) carrier results, a mixed-methods study of healthcare providers was conducted in Ontario, Canada, to understand attitudes regarding result management using a cross-sectional survey (N = 1615) and semistructured interviews (N = 42). RESULTS: Agreement to reasons favouring disclosure of SCD carrier results was high (65.1%-92.7%) and to reasons opposing disclosure was low (4.1%-18.1%). Genetics professionals expressed less support for arguments favouring disclosure (35.3%-78.8%), and more agreement with arguments opposing disclosure (15.7%-51.9%). A slim majority of genetics professionals (51.9%) agreed that a reason to avoid disclosure was the importance of allowing the child to decide to receive results. Qualitatively, there was a perceived "duty" to disclose, that if the clinician possessed the information, the clinician could not withhold it. DISCUSSION: While a majority of respondents perceived a duty to disclose the incidental results of newborn screening, the policy implications of these attitudes are not obvious. In particular, policy must balance descriptive ethics (ie, what providers believe) and normative ethics (ie, what duty-based principles oblige), address dissenting opinion and consider the relevance of moral principles grounded in clinical obligations for public health initiatives.

Genetic services for hereditary breast/ovarian and colorectal cancers - physicians' awareness, use and satisfaction.

OBJECTIVES: In 2000, the Ministry of Health in Ontario, Canada, introduced a publicly funded program to provide genetic services for hereditary breast/ovarian and colorectal cancers. We surveyed physicians to determine their awareness, use and satisfaction with this program. METHODS: A self-administered questionnaire was mailed to a random sample of 25% of Ontario family physicians and all gynecologists, oncologists (radiation, surgical and medical), gastroenterologists and general surgeons. RESULTS: Response rate was 49% (n = 1,427). Awareness of genetic testing for breast/ovarian cancer was high (91%) but less for colorectal cancer (60%). Use of services was associated with physician age of 40 or greater, urban location, confidence in knowledge of referral criteria and core competencies in genetics, and awareness of the program and where to refer. Almost half were dissatisfied with notification about the program. CONCLUSIONS: Ontario physicians are aware of cancer genetics services, and use is associated with increased knowledge of services, and confidence in skills. They would like more timely services and education about hereditary cancers and susceptibility testing.

New matrix material for potential use in "reversible" vasectomy. Preliminary animal biocompatibility studies.

The biocompatibility of a new elastomeric-hydrogel matrix biomaterial for use as an intravasal occlusive device was assessed by inserting it into the vas deferens of dogs. The vas was removed and examined histologically after varying periods of time. The biomaterial resulted in total occlusion of the vas. Epithelial changes were limited to squamous metaplasia in areas adjacent to the implant. Changes in the subepithelium were minimal. This new material is biocompatible with the dog vas, and it has potential as an occlusive device for "reversible" vasectomy in men. Semen analysis studies are needed to assess the completeness and reversibility of the vasal occlusion achieved with this implant.

The influence of the high-risk care environment on the practice of low-risk obstetrics.

This retrospective chart review compared the intervention rates in 2,365 low-risk obstetric patients at three urban teaching hospitals, two of which were high-risk, perinatal referral centers. The third cared for mostly low-risk patients. The hypothesis was that rates of intervention in low-risk pregnancies would be higher in the high-risk care environment. Family physicians at the perinatal referral centers performed significantly more artificial rupture of membranes, epidural blocks, augmentations of labor, and episiotomies on their low-risk patients than did those at the low-risk hospital. This trend was also found for obstetricians but did not reach statistical significance. Thus, the conclusion was drawn that caring for low-risk patients in a high-risk care environment is associated with a higher intervention rate by family physicians. Factors that may contribute to this finding are discussed.

Efficacy of an educational intervention on family physicians' risk assessment and management of colorectal cancer.

We developed a point-of-care tool indicating risk categories for colorectal cancer (CRC) based on family history (FH) and management recommendations tailored to risk. The study objective was to determine if this CRC Risk Triage/Management Too would enable family physicians (FPs) to appropriately triage and make screening and genetics referral recommendations for patients with CRC FH. Baseline questionnaires were mailed to a random sample of FPs in Ontario and Newfoundland, Canada. Participants were asked to use the tool for 3 months and then complete a follow-up questionnaire. The primary outcomes were correct responses to questions regarding CRC risk category, screening method, starting age, frequency, and decision to refer to genetics, for eight clinical vignettes. The study was completed by 75/121 (62 %) participating FPs. Most (77 %) agreed they routinely recommended fecal occult blood testing for average risk patients age ≥50. This did not change significantly following the intervention. There was a significant increase in confidence in CRC risk assessment (52 % pre; 88 % post; p < 0.001), correct management recommendations for patients with CRC FH (51 % pre; 84 % post; p < 0.001), and improvement in total mean scores on outcome measures for all vignettes. Most (90 %) agreed the tool would improve practice. Receipt of the CRC Risk Triage/Management Tool was associated with improvement in FPs' CRC risk assessment, screening, and genetics referral recommendations for clinical vignettes. This demonstrates the value of point-of-care tools and illustrates a process for development, evaluation, and dissemination of tools needed by FPs if potential impacts of genomic advances are to be achieved.

Family history: impact on coronary heart disease risk assessment beyond guideline-defined factors.

OBJECTIVE: Family history (FH) provides insights into the effects of shared genomic susceptibilities, environments and behaviors, making it a potentially valuable risk assessment tool for chronic diseases. We assessed whether coronary heart disease (CHD) risk assessment is improved when FH information is added to other clinical information recommended in guidelines. METHODS: We applied logistic regression analyses to cross-sectional data originally obtained from a UK study of women who delivered a live-born infant between 1951 and 1970. We developed 3 models: Model 1 included only the covariates in a guideline applicable to the population, Model 2 added FH to Model 1, and Model 3 included a fuller range of risk factors. For each model, its ability to discriminate between study subjects with and those without CHD was evaluated and its impact on risk classification examined using the net reclassification index. RESULTS: FH was an independent risk factor for CHD (odds ratio = 1.7, 95% confidence interval = 1.26-2.47) and improved discrimination beyond guideline-defined clinical factors (p < 0.0006). However, the difference in the area under the curve of 2.8% and the extent of patient reclassification resulting from the inclusion of FH were small (p = 0.11). CONCLUSION: While FH were a significant independent risk factor for CHD, it added little to risk factors typically included in guidelines.

Family history tools in primary care: does one size fit all?

Family health history (FHH) has potential value in many health care settings. This review discusses the potential uses of FHH information in primary care and the need for tools to be designed accordingly. We developed a framework in which the attributes of FHH tools are mapped against these different purposes. It contains 7 attributes mapped against 5 purposes. In considering different FHH tool purposes, it is apparent that different attributes become more or less important, and that tools for different purposes require different implementation and evaluation strategies. The context in which a tool is used is also relevant to its effectiveness. For FHH tools, it is unlikely that 'one size fits all', although appreciation of different purposes, users and contexts should facilitate the development of different applications from single FHH platforms.

Consent for newborn screening: the attitudes of health care providers.

BACKGROUND: As newborn screening (NBS) expands to meet a broader definition of benefit, the scope of parental consent warrants reconsideration. METHODS: We conducted a mixed methods study of health care provider attitudes toward consent for NBS, including a survey (n = 1,615) and semi-structured interviews (n = 36). RESULTS: Consent practices and attitudes varied by provider but the majority supported mandatory screening (63.4%) and only 36.6% supported some form of parental discretion. Few health care providers (18.6%) supported seeking explicit consent for screening condition-by-condition, but a larger minority (39.6%) supported seeking consent for the disclosure of incidentally generated sickle cell carrier results. Qualitative findings illuminate these preferences: respondents who favored consent emphasized its ease while dissenters saw consent as highly complex. CONCLUSION: Few providers supported explicit consent for NBS. Further, those who supported consent viewed it as a simple process. Arguably, these attitudes reflect the public health emergency NBS once was, rather than the public health service it has become. The complexity of NBS panels may have to be aligned with providers' capacity to implement screening appropriately, or providers will need sufficient resources to engage in a more nuanced approach to consent for expanded NBS.

Canada: public health genomics.

Canada has a diverse population of 32 million people and a universal, publicly funded health care system provided through provincial and territorial health insurance plans. Public health activities are resourced at provincial/territorial level with strategic coordination from national bodies. Canada has one of the longest-standing genetics professional specialty organizations and is one of the few countries offering master's level training designed specifically for genetic counselors. Prenatal screening is offered as part of routine clinical prenatal services with variable uptake. Surveillance of the effect of prenatal screening and diagnosis on the birth prevalence of congenital anomalies is limited by gaps and variations in surveillance systems. Newborn screening programs vary between provinces and territories in terms of organization and conditions screened for. The last decade has witnessed a four-fold increase in requests for genetic testing, especially for late onset diseases. Tests are performed in provincial laboratories or outside Canada. There is wide variation in participation in laboratory quality assurance schemes, and there are few regulatory frameworks in Canada that are directly relevant to genetics testing services or population genetics. Health technology assessment in Canada is conducted by a diverse range of organizations, several of which have produced reports related to genetics. Several large-scale population cohort studies are underway or planned, with initiatives to harmonize their conduct and the management of ethical issues, both within Canada and with similar projects in other countries.

Maternal serum screening.

Maternal serum screening (MSS) measures three serum markers: alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol, from which the risk of fetal Down syndrome or open neural tube defect is calculated. Initially, 8% of women will have positive results. I present a protocol for investigating these women. Family physicians should be informed about MSS so they can give their patients information and guidance.

The challenge of teaching obstetrics to family practice residents.

Physicians who incorporate maternity care into family practice experience an increase in job satisfaction and enjoy a more favourable practice profile. Yet many family physicians are opting out of the obstetrical care of their patients. This development presents a major challenge to the teachers of family medicine. In many teaching programs the response of staff has been to move significant portions of residency training in obstetrics to smaller community hospitals. At Mount Sinai Hospital in Toronto, we believe that an integrated program in the tertiary care centre offers definite advantages. Our obstetrical training program integrates four elements: the community, the hospital, the Department of Family and Community Medicine, and the training program offered by that Department. We expect that family practice residents, by participating in this multifaceted, integrated program, will make a better-informed choice about practising obstetrics.

Chlamydia trachomatis during pregnancy. To screen or not to screen?

A critical review of the literature on screening for and treating Chlamydia trachomatis during pregnancy suggests that all pregnant women at high risk of chlamydial infection, or from a population where infection is prevalent, should be screened and treated. This will help reduce chlamydial infections in infants and may decrease adverse outcomes of pregnancy.

Choosing to Practise Obstetrics: What factors influence family practice residents?

To document their plans for practising obstetrics and factors influencing these decisions, a questionnaire was sent to all 79 residents graduating from the University of Toronto's Department of Family and Community Medicine. Fifty-one percent of the 53 residents who responded (67%) planned to practise obstetrics on graduation; 21% planned antenatal care only; 11% planned no obstetrics; and 17% were undecided. The family practice program appeared to influence the residents positively.

The Growth of a Family: A family-oriented approach to pregnancy care.

Caring for a family during pregnancy and birth is an ideal opportunity for family physicians to assess family functioning and help the family adjust to the birth of a new child. Stress and support systems can influence the course of pregnancy, including obstetric and perinatal outcomes. A family-centered approach can help patients during this critical stage of family development.

Fetal assessment in the third trimester.

Fetal health in the third trimester is assessed by means of clinical, ultrasound, biochemical, and biophysical techniques. Clinical examination and prenatal risk scoring should be performed at every prenatal visit. Fetal movement counting may be recommended to all pregnant women in the last trimester. A strategy is presented for use of the non-stress test and biophysical profile score for women at increased risk. Family physicians with a low-risk obstetrics practice must judge who should be referred for testing.

Helping Families Manage Eating Difficulties in the Toddler and Pre-schooler.

Parents of toddlers and pre-schoolers often report "eating difficulties" to their family doctors. Most problems arise from a combination of the normal psychological development of children, their changing nutritional needs, and parental responses to these changes. During well child and episodic visits, family doctors can assess these issues by taking a careful nutritional history, charting growth and development, and exploring the role of the family in defining and coping with the problem. Management includes prevention through anticipatory guidance and general information, treating problems with specific suggestions, and ongoing support.

Family physicians in maternity care. Still in the game? Report from the CFPC's Janus Project.

OBJECTIVE: To describe family doctors' contribution to maternity care in Canada and to observe the influence of age, sex, region of the country, and practice population on provision of maternity care. SURVEY: College of Family Physicians of Canada's Janus Project national family physician survey. SETTING: All 10 provinces and two territories. PARTICIPANTS: Random sample of family physicians and general practitioners, both members and non-members of the College. MAIN OUTCOME MEASURES: Proportion of family doctors participating in prenatal, intrapartum, postpartum, and newborn care, and proportion of doctors involved in intrapartum care by age, sex, location in Canada, and practice population. RESULTS: Overall response rate was 58%. Just over 50% of all family doctors in Canada are involved in some aspect of maternity care; 19% do intrapartum care; and 33% are involved in prenatal (shared) care. Similar proportions of men and women still do intrapartum care, but women care for more pregnancies than men. More family doctors serving rural areas are doing intrapartum care compared with doctors in urban areas, although those in urban areas tend to do more deliveries. The western provinces have the highest percentages of intrapartum caregivers. A gradual decline in percentage of intrapartum caregivers by age group increases among the 55- to 64-year-old cohort. Almost a quarter of women doctors younger than 35 years are doing intrapartum care. Most physicians doing prenatal (shared) care look after women until the third trimester. CONCLUSIONS: Family doctors are still providing a large proportion of maternity care in Canada. This contribution must be nurtured by the College through its Maternity and Newborn Care Committee and other contacts to encourage family doctors to continue offering this essential service to childbearing women in Canada.