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1.  Efficacy of an educational intervention on family physicians’ risk assessment and management of colorectal cancer 
Journal of Community Genetics  2014;5(4):303-311.
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.
PMCID: PMC4159475  PMID: 24715212
Colorectal cancer; Primary care; Family history; Risk assessment; Education
2.  Draft Genome Sequence of a Pantoea sp. Isolated from a Preterm Neonatal Blood Sepsis Patient 
Genome Announcements  2014;2(5):e00904-14.
Herein, we report the draft genome sequence of Pantoea sp. ED-NGS-1003, cultivated from a blood sample taken from a neonatal sepsis patient at the Royal Infirmary, Edinburgh, Scotland, United Kingdom.
PMCID: PMC4161753  PMID: 25212624
3.  Draft Genome Sequence of a Staphylococcus aureus Isolate Taken from the Blood of a Preterm Neonatal Blood Sepsis Patient 
Genome Announcements  2014;2(5):e00906-14.
Herein, we report the draft genome sequence of Staphylococcus aureus ED-NGS-1006, cultivated from a blood sample taken from a neonatal sepsis patient at the Royal Infirmary in Edinburgh, Scotland, United Kingdom.
PMCID: PMC4161754  PMID: 25212625
4.  Draft Genome Sequence of an Enterococcus faecalis Strain Isolated from a Neonatal Blood Sepsis Patient 
Genome Announcements  2014;2(5):e00907-14.
Herein, we report the draft genome sequence of Enterococcus faecalis ED-NGS-1009, cultivated from a blood sample taken from a neonatal sepsis patient at the Royal Infirmary in Edinburgh, Scotland, United Kingdom.
PMCID: PMC4161755  PMID: 25212626
5.  Draft Genome Sequence of a Serratia marcescens Strain Isolated from a Preterm Neonatal Blood Sepsis Patient at the Royal Infirmary, Edinburgh, Scotland, United Kingdom 
Genome Announcements  2014;2(5):e00908-14.
Herein, we report the draft genome sequence for isolate ED-NGS-1015 of Serratia marcescens, cultivated from a blood sample obtained from a neonatal sepsis patient at the Royal Infirmary in Edinburgh, Scotland, United Kingdom.
PMCID: PMC4161756  PMID: 25212627
6.  Draft Genome Sequence of a Staphylococcus warneri Strain Isolated from a Preterm Neonate Blood Sepsis Patient at the Royal Infirmary, Edinburgh, Scotland 
Genome Announcements  2014;2(5):e00877-14.
Herein, we report the draft genome sequence of Staphylococcus warneri ED-NGS-1001, cultivated from a blood sample taken from a preterm neonate blood sepsis patient at the Royal Infirmary, Edinburgh, Scotland, United Kingdom.
PMCID: PMC4155591  PMID: 25189586
7.  Draft Genome Sequence of a Streptococcus agalactiae Strain Isolated from a Preterm Neonate Blood Sepsis Patient at the Royal Infirmary, Edinburgh, Scotland 
Genome Announcements  2014;2(5):e00875-14.
Herein, we report the draft genome sequence of Streptococcus agalactiae ED-NGS-1000, cultivated from a blood sample taken from a preterm neonate blood sepsis patient at the Royal Infirmary, Edinburgh, Scotland, United Kingdom.
PMCID: PMC4155589  PMID: 25189584
8.  Polymorphism in the Angiotensin II Type 1 Receptor (AGTR1) is Associated with Age at Diagnosis in Pulmonary Arterial Hypertension 
Pulmonary arterial hypertension (PAH) is a rare, lethal disease associated with single gene disorders, connective tissue disease, exposures to anorexigens, and often idiopathic etiology. There is evidence that genes can modify the risk of PAH: 1) monogenic disorders associated with PAH are incompletely penetrant, and 2) not all patients with associated conditions at increased risk for PAH develop the disease. The renin angiotensin aldosterone system (RAAS) provides a set of candidate genes that could modulate pulmonary vascular disease similar to its effects on renal and peripheral vasculature.
We studied 247 subjects with PAH (177 subjects with idiopathic PAH (IPAH); 63 subjects with PAH/connective tissue disease (CTD); and 7 subjects with PAH associated with anorexigens). Subjects were genotyped for five common polymorphisms in angiotensinogen (AGT), angiotensin converting enzyme (ACE), cardiac chymase A (CMA1), angiotensin II type 1 receptor (AGTR1) and aldosterone synthase (CYP11B2). Genotypes were tested for associations with age at diagnosis, hemodynamic parameters at diagnosis, and/or response to acute pulmonary vasodilator testing at diagnosis.
Associations were demonstrated for AGTR1 and age at diagnosis in IPAH (p=0.005). Homozygotes for the C1166 allele (n=13) were associated with an age at diagnosis 26 years later than subjects with A/A (n=139) or A/C (n=90) genotypes. No associations were demonstrated for AGT, ACE, CMA1, or CYP11B2.
The 1166C polymorphism in AGTR1 appears to be associated with a later age at diagnosis in IPAH suggesting that this pathway could be involved in the biologic variability that is known to occur in PAH.
PMCID: PMC3712279  PMID: 19332265
genetic; pulmonary hypertension; renin; angiotensin; aldosterone
9.  FRAX or Fiction: Determining Optimal Screening Strategies for Treatment of Osteoporosis in Residents in Long Term Care Facilities 
Osteoporosis and fractures are common in long term care residents but little data are available on screening strategies for treatment of such patients.
Cross-sectional analysis to examine screening strategies for treatment.
Assisted living or skilled care facilities.
Two hundred and two frail elderly women age 65 and older, excluding those on bisphosphonates.
Treatment eligibility criteria included 1) clinical fractures of the hip or spine (Clin Fx), 2) clinical fractures or bone mineral density (BMD), 3) Clin Fx, BMD, or vertebral fractures (VF assessed by DXA based vertebral fracture assessments), 4) fracture risk algorithm using femoral neck BMD (FRAX-FN), 5) fracture risk algorithm using BMI (FRAX-BMI) or 6) Clin Fx or heel ultrasound (heel US).
Mean age was 85 years. Treatment eligibility ranged from 17% (Clin Fx) to 98% (FRAX-BMI). VFs were found in 47%, of whom 74% were silent. Criteria with Clin Fx, BMD or VF identified 73% of study participants for treatment. FRAX-FN suggested treatment in 81% but would have missed about 10% of patients with silent vertebral fractures. Clin Fx or heel ultrasound suggested 39% of participants treatment eligible.
In long term care residents, those eligible for osteoporosis treatment ranged from less than 20% to roughly all patients depending on screening criteria. Vertebral fractures are common and identify a subset of patients missed by conventional bone density or FRAX-FN. A reasonable clinical approach could consider treatment for those with clinical fractures of the hip or spine, radiologic evidence for a vertebral fracture or osteoporosis by bone density classification. Prospective studies are needed to determine optimal screening strategies for treatment in this cohort.
PMCID: PMC3477847  PMID: 22316237
osteoporosis; long term care; FRAX
10.  Reconstructing foveal pit morphology from optical coherence tomography imaging 
The British Journal of Ophthalmology  2009;93(9):1223-1227.
The aim of this study was to describe an automated method for extracting quantitative measures of foveal morphology from optical coherence tomography (OCT) images of the human retina.
We performed a methodological study and retrospective investigation of selected cases. Sixty-five human subjects were included: 61 healthy subjects and four female carriers of blue-cone monochromacy (BCM). Thickness data from B-scans traversing the foveal pit were fitted to a mathematical model designed to capture the contour of the foveal surface. From this model, various metrics of foveal morphology were extracted (pit depth, diameter and slope).
Mathematical descriptions of foveal morphology enabled quantitative and objective evaluation of foveal dimensions from archived OCT data sets. We found a large variation in all aspects of the foveal pit (depth, diameter and slope). In myopes and BCM carriers, foveal pits were slightly less deep and had a more shallow slope, although these differences were not significant.
Offline analysis of OCT data sets enables quantitative assessment of foveal morphology. The algorithm works on the Stratus™ and Cirrus™ macular thickness protocols, as well as the Spectralis® and Bioptigen© radial-line scan protocols, and can be objectively applied to existing data sets. These metrics will be useful in following changes associated with diseases such as retinopathy of prematurity and high myopia, as well as in studying normal postnatal development of the human fovea.
PMCID: PMC3327485  PMID: 19474001
11.  Effect of maternal restraint-stress during gestation on temporal lipopolysacharide-induced neuroendocrine and immune responses of progeny 
Domestic animal endocrinology  2010;40(1):40-50.
The impact of gestational dam restraint stress on progeny immune and neuroendocrine temporal hormone responses to lipopolysaccharide (LPS) challenge was assessed. Maternal stress (5-min snout snare restraint stress during d 84 to 112 of gestation) increased (P < 0.05) the magnitude of tumor necrosis factor (TNF)-α, interleukin (IL)-6, epinephrine (E), norepinephrine (NE) and serum amyloid A (SAA) production following LPS infusion in the offspring. Moreover, these effects appear to be dependent on gender for TNF-α, E, EPI and cortisol production. However, maternal stress did not affect (P > 0.05) the normalization of proinflammatory cytokines or neuroendocrine hormones produced following LPS. Collectively, these results indicate that maternal stress impacts aspects of the proinflammatory cytokine and stress hormone response in their progeny following LPS dosing of the offspring. This response is potentially responsible in part for the resultant changes to SAA production. As several of the changes observed here are dependent on pig gender, these results are also the first evidence that inherent epigenetic factors coupled with maternal stress impacts the cumulative response to stress and LPS in young pigs.
PMCID: PMC2996048  PMID: 20932703
cytokine; gender; lipopolysaccharide; maternal stress; pig
12.  Fluoresceinated Peanut Agglutinin (PNA) is a Marker for Live O2 Sensing Glomus Cells in Rat Carotid Body 
Experiments using live dissociated carotid body (CB) cells for patch clamping, [Ca++]i or other measurements require positive identification of the cell being recorded. At present, cell morphology is usually employed, but several cell types within the carotid body evidence similar morphologic characteristics. Therefore, we sought to develop a method utilizing a vital dye to identify glomus cells before and during experiments that require live cells, such as patch clamp studies. It was previously reported that the binding sites for peanut agglutinin (PNA) were highly expressed by all neuroendocrine-derivatives of the sympathoadrenal neural crest, including glomus cells, small, intensely fluorescent cells, PC-12 cells, and adrenal chromaffin cells in situ (Katz et al. 1995). By utilizing the binding characteristics of galactose-specific lectin peanut agglutinin (PNA) on the outer cell membrane, we tested the possibility that the fluoresceinated PNA may preferentially bind to CB glomus cells. The results to date show: (1) Rhodamine tagged PNA (Rhod-PNA) binds to the live dissociated glomus cells in less than one hour incubation and can be visualized in superfused cells; (2) Rhod-PNA labeled cells are perfectly matched with tyrosine hydroxylase (TH) positive glomus cells; (3) Rhod-PNA did not interfere with Fura-2 for Ca++ imaging; (4) Rhod-PNA bound to glomus cells in [Ca++]i studies does not affect O2 response of glomus cells. Thus fluoresceinated PNA may be a useful marker for live CB glomus studies, without adversely affecting their physiologic response.
PMCID: PMC2958663  PMID: 19536480
PNA; Peanut agglutinin; Lectin; CB; Glomus cells; Marker; O2 sensing; TH; Ca++ imaging; Double immunostaining
13.  Design of high reliability organizations in health care 
Quality & Safety in Health Care  2006;15(Suppl 1):i4-i9.
To improve safety performance, many healthcare organizations have sought to emulate high reliability organizations from industries such as nuclear power, chemical processing, and military operations. We outline high reliability design principles for healthcare organizations including both the formal structures and the informal practices that complement those structures. A stage model of organizational structures and practices, moving from local autonomy to formal controls to open inquiry to deep self‐understanding, is used to illustrate typical challenges and design possibilities at each stage. We suggest how organizations can use the concepts and examples presented to increase their capacity to self‐design for safety and reliability.
PMCID: PMC2464869  PMID: 17142607
high reliability organization; design; patient safety
14.  The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2 
Journal of Medical Genetics  2005;42(7):540-546.
Neurofibromatosis 2 (NF2) patients with constitutional splice site NF2 mutations have greater variability in disease severity than NF2 patients with other types of mutations; the cause of this variability is unknown. We evaluated genotype-phenotype correlations, with particular focus on the location of splice site mutations, using mutation and clinical information on 831 patients from 528 NF2 families with identified constitutional NF2 mutations. The clinical characteristics examined were age at onset of symptoms of NF2 and number of intracranial meningiomas, which are the primary indices of the severity of NF2. Two regression models were used to analyse genotype-phenotype correlations. People with splice site mutations in exons 1–5 had more severe disease than those with splice site mutations in exons 11–15. This result is compatible with studies showing that exons 2 and 3 are required for self-association of the amino terminal of the NF2 protein in vitro, and that deletions of exons 2 and 3 in transgenic and knockout mouse models of NF2 cause a high prevalence of Schwann cell derived tumours.
PMCID: PMC1736092  PMID: 15994874
15.  Redirecting traditional professional values to support safety: changing organisational culture in health care 
Quality & safety in health care  2004;13(Suppl 2):ii16-ii21.
Professionals in healthcare organisations who seek to enhance safety and quality in an increasingly demanding industry environment often identify culture as a barrier to change. The cultural focus on individual autonomy, for example, seems to conflict with desired norms of teamwork, problem reporting, and learning. We offer a definition and explication of why culture is important to change efforts. A cultural analysis of health care suggests professional values that can be redirected to support change. We offer examples of organisations that drew upon cultural strengths to create new ways of working and gradually shifted the culture.
PMCID: PMC1765803  PMID: 15576686
16.  Lessons learned from non-medical industries: root cause analysis as culture change at a chemical plant 
Quality & safety in health care  2002;11(3):266-269.

 Root cause analysis was introduced to a chemical plant as a way of enhancing performance and safety, exemplified by the investigation of an explosion. The cultural legacy of the root cause learning intervention was embodied in managers' increased openness to new ideas, individuals' questioning attitude and disciplined thinking, and a root cause analysis process that provided continual opportunities to learn and improve. Lessons for health care are discussed, taking account of differences between the chemical and healthcare industries.
PMCID: PMC1743627  PMID: 12486993
17.  Leading organisational learning in health care 
PMCID: PMC1743554  PMID: 12078370
18.  Resistance training enhances the stability of sensorimotor coordination. 
Strategies for the control of human movement are constrained by the neuroanatomical characteristics of the motor system. In particular, there is evidence that the capacity of muscles for producing force has a strong influence on the stability of coordination in certain movement tasks. In the present experiment, our aim was to determine whether physiological adaptations that cause relatively long-lasting changes in the ability of muscles to produce force can influence the stability of coordination in a systematic manner. We assessed the effects of resistance training on the performance of a difficult coordination task that required participants to synchronize or syncopate movements of their index finger with an auditory metronome. Our results revealed that training that increased isometric finger strength also enhanced the stability of movement coordination. These changes were accompanied by alterations in muscle recruitment patterns. In particular, the trained muscles were recruited in a more consistent fashion following the programme of resistance training. These results indicate that resistance training produces functional adaptations of the neuroanatomical constraints that underlie the control of voluntary movement.
PMCID: PMC1088595  PMID: 11217890
19.  Bacterial Reductive Dissolution of Crystalline Fe(III) Oxide in Continuous-Flow Column Reactors 
Bacterial reductive dissolution of synthetic crystalline Fe(III) oxide-coated sand was studied in continuous-flow column reactors in comparison with parallel batch cultures. The cumulative amount of aqueous Fe(II) exported from the columns over a 6-month incubation period corresponded to (95.0 ± 3.7)% (n = 3) of their original Fe(III) content. Wet-chemical analysis revealed that only (6.5 ± 3.2)% of the initial Fe(III) content remained in the columns at the end of the experiment. The near-quantitative removal of Fe was visibly evidenced by extensive bleaching of color from the sand in the columns. In contrast to the column reactors, Fe(II) production quickly reached an asymptote in batch cultures, and only (13.0 ± 2.2)% (n = 3) of the Fe(III) oxide content was reduced. Sustained bacterial-cell growth occurred in the column reactors, leading to the production and export of a quantity of cells 100-fold greater than that added during inoculation. Indirect estimates of cell growth, based on the quantity of Fe(III) reduced, suggest that only an approximate doubling of initial cell abundance was likely to have occurred in the batch cultures. Our results indicate that removal of biogenic Fe(II) via aqueous-phase transport in the column reactors decreased the passivating influence of surface-bound Fe(II) on oxide reduction activity, thereby allowing a dramatic increase in the extent of Fe(III) oxide reduction and associated bacterial growth. These findings have important implications for understanding the fate of organic and inorganic contaminants whose geochemical behavior is linked to Fe(III) oxide reduction.
PMCID: PMC91943  PMID: 10698772
20.  Women's experience of maternal serum screening. 
Canadian Family Physician  2000;46:614-620.
OBJECTIVE: To explore the ideas, opinions, feelings, and experiences of women regarding prenatal genetic screening, specifically maternal serum screening (MSS). DESIGN: Qualitative technique of focus groups. SETTING: Northern, rural, inner-city, urban, and suburban communities in Ontario. PARTICIPANTS: Women who had given birth to babies from January 1994 to May 1996, but who were not currently pregnant (n = 60). METHOD: Six focus groups composed of women living in various communities who had recently given birth to babies explored the experience of MSS. MAIN FINDINGS: Women want informed choice about prenatal genetic screening. Three factors influenced women's decisions to undergo or decline prenatal genetic screening: their personal values, including their philosophy of life, moral, and religious values, and attitudes regarding Down syndrome and disability; social support including their partners, families, and friends; and quality of information from health care providers. Women want their providers to give them information personally; they want to receive the information as early as possible in prenatal care to allow time for reflection; and they want unbiased, accurate information in order to make a decision that is in keeping with their personal values and beliefs. CONCLUSIONS: Knowledge of women's ideas, opinions, feelings, and experiences regarding MSS suggests specific ways health care providers can facilitate informed decision making in prenatal screening. Providing information about genetic testing needs to be individualized, with women actively participating in the decision-making process. Information needs described by these women could apply to other prenatal genetic tests that might be available in the future.
PMCID: PMC2144979  PMID: 10752000
21.  Family physicians in maternity care. Still in the game? Report from the CFPC's Janus Project. 
Canadian Family Physician  2000;46:601-611.
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. DESIGN: 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.
PMCID: PMC2144974  PMID: 10751999
22.  Going the distance: the influence of practice location on the Ontario Maternal Serum Screening Program 
BACKGROUND: The Ontario Maternal Serum Screening (MSS) Program was introduced by the Ontario Ministry of Health as a province-wide pilot project in 1993. The objective of this study was to determine the influence of practice location on Ontario health care providers' use of and opinions regarding MSS, access to follow-up services and recommendations about the program. METHODS: A questionnaire was mailed to a random sample of 2000 family physicians, all 565 obstetricians and all 62 registered midwives in Ontario between November 1994 and March 1995. RESULTS: Among providers who were eligible (those providing antenatal care or attending births) the response rates were 91.4% (778/851), 76.0% (273/359) and 78.0% (46/59) respectively. Fewer respondents in the Northwest region (71.4%) and in rural areas (81.9%) stated that they routinely offer MSS to all pregnant women in their practices compared with respondents in other regions (84.4%-91.5%) and urban centres (90.1%). Fewer respondents in the northern regions (Northeast 49.2%, Northwest 25.0%) than in the Central East region (includes Toronto) (76.6%) felt that follow-up services were readily available. Respondents in the northern regions had less favourable opinions of MSS than those in the other regions in terms of its complexity, cost, the time involved in counselling and the high false-positive rate. More respondents in the Central East region (64.6%) and in urban centres (52.9%) recommended not changing the MSS program than did those in the Northwest (7.1%) and rural areas (39.8%). After provider characteristics were controlled for in a logistic regression analysis, practice location was not the most important factor. Instead, the model showed that respondents who cared for 50 or more pregnant women in the previous year were more likely to offer MSS routinely (OR 2.00, 95% CI 1.21-3.27) and that those who felt that patient characteristics affect the offering of MSS (OR 0.42, 95% CI 0.26-0.67) or that follow-up services were not readily available (OR 0.33, 95% CI 0.20-0.55) were less likely to offer it. INTERPRETATION: Health care providers in northern and rural Ontario were less likely to offer MSS routinely than those in other regions and were more likely to recommend changing or eliminating the program. Providers' concerns about the social and cultural sensitivity of MSS and the availability of follow-up services affected use.
PMCID: PMC1230538  PMID: 10478161
23.  Obstetrics anyone? How family medicine residents' interests changed. 
Canadian Family Physician  1999;45:638-647.
OBJECTIVE: To determine family medicine residents' attitudes and plans about practising obstetrics when they enter and when they graduate from their residency programs. DESIGN: Residents in each of 4 consecutive years, starting July 1991, were surveyed by questionnaire when they entered the program and again when they graduated (ending in June 1996). Only paired questionnaires were used for analysis. SETTING: Family medicine residency programs at the University of Toronto in Ontario. PARTICIPANTS: Of 358 family medicine residents who completed the University of Toronto program, 215 (60%) completed questionnaires at entry and exit. MAIN OUTCOME MEASURES: Changes in attitudes and plans during the residency program as ascertained from responses to entry and exit questionnaires. RESULTS: Analysis was based on 215 paired questionnaires. Women residents had more interest in obstetric practice at entry: 58% of women, but only 31% of men were interested. At graduation, fewer women (49%) and men (22%) were interested in practising obstetrics. The intent to undertake rural practice was strongly associated with the intent to practise obstetrics. By graduation, residents perceived lifestyle factors and compensation as very important negative factors in relation to obstetric practice. Initial interest and the eventual decision to practise obstetrics were strongly associated. CONCLUSIONS: Intent to practise obstetrics after graduation was most closely linked to being a woman, intending to practise in a rural area, and having an interest in obstetrics prior to residency. Building on the interest in obstetrics that residents already have could be a better strategy for producing more physicians willing to practise obstetrics than trying to change the minds of those uninterested in such practice.
PMCID: PMC2328441  PMID: 10099803
24.  Hereditary breast cancer. Psychosocial issues and family physicians' role. 
Canadian Family Physician  1999;45:126-132.
OBJECTIVES: To outline the psychosocial issues in hereditary breast cancer (HBC) assessment and discuss the role of family physicians. QUALITY OF EVIDENCE: A literature search using MEDLINE, CINAHL, CancerLit, and HealthStar databases was conducted from January 1990 to April 1998, using the key words breast cancer or neoplasm and familial or hereditary, genetic testing or screening, primary care or family physician or counseling, genetic counseling, psychosocial or psychological. We found only a few studies focusing on a small number of well-studied "research families." MAIN FINDINGS: Women with a family history of breast cancer were likely to be highly interested in genetic testing for cancer risk. The benefit of testing for those with negative results is reassurance. Those found to be carriers of genetic mutations might benefit from increased surveillance and prophylactic therapy. Risks of testing include anxiety, depression, guilt, altered self-image, and insurance and employment discrimination. A family physician's role is to assess risk, to provide information and support so women can make informed choices about referral to familial cancer clinics, to offer cancer surveillance, and to provide support once genetic test results are available. CONCLUSION: Genetic testing is rapidly moving from research to clinical applications. Family physicians play an integral role in educating and managing women at risk for HBC. Physicians must prepare themselves with knowledge and counseling skills to meet the challenges of this new technology.
PMCID: PMC2328025  PMID: 10889865
25.  Hereditary breast cancer. Identifying and managing BRCA1 and BRCA2 carriers. 
Canadian Family Physician  1999;45:114-124.
OBJECTIVES: To present a strategy for identifying candidates for consideration of BRCA1 and BRCA2 mutation testing. To discuss the implications of identifying patients as BRCA1 or BRCA2 mutation carriers, and to provide recommendations for managing them. QUALITY OF EVIDENCE: A MEDLINE search from January 1990 to May 1998 was performed using the terms genetic breast screening, BRCA1, and BRCA2. The bibliographies of articles found were searched for further relevant titles. There are no published, randomized controlled clinical trials of management strategies for known BRCA carriers. Many recommendations for management are based on expert opinion only. MAIN FINDINGS: About 5% of women with breast cancer are carriers of genetic mutations. An accurate and detailed family history is the most important tool for identifying potential BRCA1 and BRCA2 mutation carriers. Women identified as carriers have a substantially increased risk of breast and ovarian cancer. Male carriers have a moderately increased risk of prostate cancer. Management strategies for carriers are not well studied but include increased surveillance, preventive surgery, chemoprevention, and lifestyle modification. CONCLUSION: Family physicians must be able to identify people at risk, to discuss management strategies, and when appropriate, to offer referral for consideration of genetic testing. There is an urgent need for research to determine the effectiveness of surveillance strategies, preventive surgery, chemoprevention, and lifestyle modification for BRCA1 and BRCA2 mutation carriers.
PMCID: PMC2328074  PMID: 10889864

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