Author Country Study type Study population, n Response rate, n (%)   Selected findings  
Documentation of family history information Knowledge to identify HBOC or Lynch syndrome Awareness of genetic services Referral patterns
Cox et al. [37] USA Cross- sectional 2506 primary care physicians, naturopaths, obstetric gynecologists, gastroenterologists, oncologists, colorectal and general surgeons 1242 (57) Not assessed. Indirectly assessed – knowledge was measured as confidence level. Not assessed. The most common reason for ordering/recommending BRCA or MMR testing was that the patient met practice guidelines, and in response to patients’ requests. Primary care physicians and obstetric gynecologists would order or recommend a patient with cancer to a genetic specialist for BRCA testing more frequently than MMR testing.
Prochniak et al. [38] USA Cross-sectional Gastroenterologists and colorectal surgeons, total not specified 298 (~4% gastroenterologists and 6.5% surgeons in the USA) Not assessed. >90% could identify high risk colorectal cancer patients, but 70% was unable to stratify patients into high, moderate and low-risk categories. Not assessed. 83% referred patients for cancer genetic counseling; 80% ordered genetic testing for Lynch syndrome. No difference in referral rates or ordering of testing between specialties. Surgeons were more likely than gastroenterologists to refer high-risk patients to clinical medical geneticists or genetic counselors with expertise in cancer genetics (p=0.0007).
Bellcross et al. [39] USA Cross-sectional 3115 family physicians, internists, pediatricians, and obstetric gynecologists 1500 (48) Not assessed. 19% could identify low-risk and high risk patients correctly. Indirectly assessed – 87% were aware of BRCA testing. 25% ordered BRCA1/2 testing for at least one patient in the past year. Young female obstetric gynecologists who saw ≥ 100 patients and have been in practice ≤ 10 (p<0.001) years were most likely to be aware of testing.
Claybrook et al. [30] USA Cross-sectional 151 oncologists 60 (40) Not assessed – although family history of colorectal cancer was cited to be a determining factor for referral. Not assessed. 83% were aware of a centre that offered genetic services for colorectal cancer. 58% referred patients for genetic services in the past. 74% had referred due to patients’ requests for genetic services.
Vig et al. [17] USA Cross-sectional 24,066 family physicians, internist and obstetric gynecologists 860 (4) 81% assessed history of cancers by initial intake form; 55% recorded family history of first-degree relatives only, and 33% recorded a full three-generation pedigree for risk assessment. Not assessed. Not assessed – although 76% referred when access to genetic counselor is within 10 miles. 54% referred patients to genetic specialists, of which 53% referred due to patients’ requests. Obstetric gynecologists, female gender, and access to a genetic counselor were significant independent predictors for referral to genetic specialists. Use of family history or risk assessment tools was associated with increased referral (p<0.0005).
Kelly et al. [34] USA Cross-sectional 440 rural primary care physicians 176 (40) Indirectly assessed – 76% used some form of family history collection, but 92% did not use a three-generation pedigree. Use of three-generation pedigree was associated with confidence (OR 3.25, 95%CI 1.38-7.67). 70% could identify BRCA1/2-relevant scenario; 49% could identify Lynch-relevant scenario.  66% reported access to medical geneticists was somewhat or extremely difficult. For each unit improvement in access and knowledge, physicians had 1.69 (95%CI 1.17-2.43, p=.005) and 1.41 (95%CI 1.17-1.71, p<.001) times higher odds of using genetic testing. Higher knowledge and confidence were associated with higher odds of correctly identifying both hereditary cancer syndromes. Recent graduates were 1.37 (95%CI1.15-1.64) times more likely to accurately identify BRCA1/2 scenario. Lack of genetic testing does not appear to be due to differences in family history collection or ability to identify a hereditary cancer syndrome.
Domanska et al. [40] Sweden Cross-sectional 103 gynecologists, oncologists and surgeons 102 (99) Not assessed. 30% could identify the risk to inherit a Lynch-syndrome predisposing mutation. 45% could identify risk correctly for colorectal cancer, 18% for endometrial cancer, 43% for ovarian cancer, 39% for gastric cancer and 54% for urothelial cancer. Not assessed. Not assessed.
White et al. [9] USA Cross-sectional 1035 family physicians 284 (27) Indirectly assessed – most family physicians regarded the patient’s sister’s age at diagnosis as an important factor in their referral decision. Indirectly assessed – a hypothetical low-risk breast cancer patient presented to family physicians for assessment, and most regarded her risk of having a genetic mutation as relatively low. Not assessed. 92% would refer the patient for genetic services, and 50% would refer for genetic counseling. 13% would refer for genetic testing as patient requested.
Carroll et al. [41] Canada Cross-sectional 3,990 family physicians, oncologists, gynecologists, gastroenterologists, general surgeons 1427 (49) Indirectly assessed – confidence in assessing risk of hereditary breast and colorectal cancers were associated with use of genetic services. Indirectly assessed – confidence in referral criteria for both hereditary breast and colorectal cancer. 91% of all physicians were aware of genetic testing for hereditary breast-ovarian cancer but only 60% for colorectal cancer. 75% of physicians know where to refer patients for genetic services. Awareness of genetic testing for colorectal cancer was lower compared to genetic testing for breast-ovarian cancer and significantly different among physician groups, with surgical oncologists and gastroenterologists reporting greatest awareness (p<0.001). Female were more likely than male to report awareness of the hereditary breast-ovarian cancer service (OR 2.9, 95%CI 1.9-4.6). Oncologists referred the most. Physicians who could identify risk of hereditary breast and hereditary colorectal cancer were more likely to refer (OR 2.1 95%CI 1.6-2.7 and OR 1.5 95%CI 1.2-1.9, respectively).  Physicians were also more likely to refer when they are: aware of the availability of genetic services for hereditary breast cancer (OR 4.8, 95%CI 3.2-7.3) or for hereditary colorectal cancer services (OR 1.9, 95%CI 1.5-2.4), knowledge of where to refer patients (OR 11.9, 95%CI 8.8-16.2), more confident in knowledge of referral criteria for hereditary breast cancer (OR 4.1 (95%CI 3.1-5.4) and hereditary colorectal cancer (OR 2.7 (95%CI 2.0-3.6), and higher confidence in obtaining family history (OR 1.5 95%CI 1.2-1.9).
Brandt et al. [18]   USA Cross-sectional 243 primary care physicians, gynecologists, oncologists, surgeons 82 (34) 95% inquired about first-degree relatives, 77% asked about second-degree relatives, 66% asked about cancer history on both the maternal and paternal sides of the family. Indirectly assessed – knowledge was measured by comfort score. PCP was significantly less comfortable with identifying patients for referral and with discussing genetics than specialists. 59% were aware of hospital’s cancer genetics program, with specialists being more aware than PCPs (p<0.0001) 73% referred patients based on patient request; 54% did not refer due to patient disinterest. Patient referral was based on family history of cancer (96%), patient cancer history (83%), and patient request(73%).
Tomatir et al. [32] Turkey Cross-sectional 100 primary care physicians 60 (60) Indirectly assessed – 21% were able to develop a family tree by learning the genetic history of individuals. 29% knew about autosomal dominant disorders. 27% were aware of local genetic centers; 7% were knowledgeable about genetic consultation and testing. Not assessed.
Wideroff et al.[42] USA Cross-sectional 2079 primary care physicians, obstetrics gynecologists, gastroenterologists, oncologists, urologists and general surgeons 1251 (71) Not assessed. 38% could identify autosomal dominant inheritance for BRCA1/2 mutations, 34% could also identify that BRCA1/2 mutations occur in <10% of breast cancer patients. Only 13% could identify HNPCC gene penetrance as ≥50%. 61% were aware of BRCA testing – highest among gynecologists and lowest among gastroenterologists; 23% were aware of HNPCC genetic testing – highest among gastroenterologists and lowest among general practitioners. 41% who were unsure of paternal inheritance of BRCA1/2 vs. 45% who could identify the paternal inheritance of BRCA1/2 mutations would refer the patient elsewhere for testing or risk assessment; 46% who were not sure of the risk of HNPCC referred patients elsewhere for testing or risk assessment vs. 15% who could identify the risk of HNPCC. Oncologists, obstetric gynecologists and general surgeons were more knowledgeable about breast/ovarian cancer genetics and cancer risk assessment than primary care physicians; as were gastroenterologists to the HNPCC questions.
McCann et al.[43] Ireland Cross-sectional 1079 general practitioners 541 (50) Not assessed – although 87% agreed on their role in taking a family history. 60% could identify an individual with increased risk for colorectal cancer, and 87% for breast cancer. Not assessed. Low referrals, but obstetric gynecologists had referred patients to clinical genetics the most. Given the high-risk colorectal cancer patient, 70% would refer the patient to a surgical clinic vs. 59% to a genetics clinic. Given the high-risk breast cancer patient, 85% would refer the patient to a genetics clinic vs. 68% to a mammography clinic. Female physicians were also more likely to refer high-risk breast cancer patient to a genetics clinic than male physicians (p<0.001).
Acheson et al.[36] USA Cross-sectional 498 family physicians 190 (38) Not assessed. Indirectly assessed – ≥79% claimed to have addressed genetic aspects of familial breast-ovarian, colon/endometrial or other cancers. 24% said that genetic consultation is very difficult to obtain or unavailable; 31% of rural and suburban practitioners said face-to-face genetic consultation was very difficult or unavailable. The most common referrals to a geneticist were for genetic assessment of a family history of breast-ovarian cancer (13%) and family history of colon cancer (5%). Physician factors such as gender, year of graduation and practice setting were not associated with the frequency of addressing genetic aspects of any groups of conditions.
Morgan et al.[44] New Zealand Cross-sectional 586 general practitioners 328 (56) Not assessed. Indirectly assessed – 32% were not sure the type of test for breast cancer. 29% were not sure about access to genetic services. Distance, waiting time, and ability to contact genetic services were considered barriers by urban and rural physicians. 60% could identify the type of test for breast cancer. 40% had referred a breast cancer patient or ordered a genetic test in the last year.
Wideroff et al.[20] USA Cross-sectional 1763 primary care physicians, obstetric gynecologists, oncologists, gastroenterologists, urologists, and general surgeons 1251 (71) 37% very frequently ask patients about cancer in second-degree relatives, and 38% for the age of relatives' cancer diagnosis. Not assessed. 12% were unsure of availability of local testing and counseling services. Use of genetic testing is lower when physicians are unsure of availability of local genetic services (OR 0.39, 95%CI 0.23-0.66). Use of genetic testing is highest when patients requested for it (OR 5.52, 95%CI 3.97-7.67). 27% referred patients elsewhere for genetic testing compared to 8% who ordered testing directly.
Welkenhuysen et al. [45] Belgium Cross-sectional 356 general practitioners 215 (60) Not assessed. >80% could identify high-risk patients and maternal inheritance pattern of breast cancer. Only 40% were able to identify the autosomal dominant inheritance pattern of breast cancer. 55% were aware of the availability of genetic testing for breast cancer. Not assessed.
Sifri et al.[19] USA Cross-sectional 726 primary care physicians 475 (65) 90% very frequently recorded first-degree family history; 38% ordered or referred for testing (p=0.21). 56% very frequently recorded second-degree family history; 38% ordered or referred for testing (p=0.45). 65% considered family history to be the best predictor of cancer for asymptomatic patients. 16% could identify the risk of developing colorectal cancer in patients with MMR gene; 44% were uncertain about colorectal cancer risk for patients with MMR gene. Not assessed. 71% referred for cancer susceptibility testing; age and family history was reported the best predictors for cancer risk and referral. Physicians practicing in an integrated health system were more than twice as likely to use cancer susceptibility testing than those who were not affiliated to the system (OR 2.2, 95%CI 1.2-4.0).
Pichert et al.[46] Switzerland Cross-sectional 1391 primary care physicians, obstetric gynecologists, and oncologists 628 (45) Not assessed. 23% could identify the autosomal dominant inheritance pattern of hereditary breast cancer. 74% could identify hereditary breast cancer by young age at onset. Knowledge of hereditary breast cancer was significantly correlated to younger age and specialty. Not assessed. Not assessed.
Mehnert et al.[33] Germany Cross-sectional 529 gynecologists 172 (33) Indirectly assessed – 39% were confident with constructing a pedigree and 36% were confident with estimating cancer risk by pedigree analysis. Indirectly assessed – 66% were confident with basic genetic knowledge. Not assessed. 34% referred patients for genetic counseling or genetic testing; 85% of which patients were referred to one of the university cancer centers, 14% to a geneticist, and 1% did not specify their referral.
Koil et al. [29] USA Cross-sectional 855 primary care physicians, obstetric gynecologists, oncologists and general surgeons 214 (25) Not assessed. Not assessed. 12% did not know who to refer patients to, irrespective of practice location. 51% referred patients for an indication of hereditary breast cancer. Female specialists and physicians graduating before 1990 were more likely to have ever referred. Urban- and suburban-practice physicians were twice as likely to have referred patients for genetic services as rural physicians. 87% referred based on family history of cancer. 48% would refer to a genetic counselor, 36% to an oncologist, 34% to a geneticist, and 13% to a surgeon.
Friedman et al. [53] USA Cross-sectional 350 primary care physicians, obstetric gynecologists, general surgeons and pediatricians 59 (17) Not assessed. Not assessed – although 59% have discussed breast cancer genetic screening with patients, 41% on ovarian cancer genetic screening, and 40% on colon cancer genetic screening. 44% wanted to make a referral but no services were available. 64% indicated availability of genetic services as one of the barriers to genetic testing. 39% referred patients for genetic evaluation for cancer risk. 76% would consider genetic screening for BRCA1/2 and 36% for HNPCC. 88% considered cost of genetic testing a barrier to use of genetic testing.
Freedman et al. [54] USA Cross-sectional 1763 primary care physicians, obstetric gynecologists, oncologists, gastroenterologists, urologists, and general surgeons 1251 (71) Not assessed. Not assessed. 64% indicated that genetic testing was not readily available. 41% indicated genetic consultation was not readily available. 38% referred patients for genetic testing; those who were unsure of availability of genetic testing facilities and were less likely to recommend genetic testing (OR 0.63, 95%CI 0.40-1.00). Oncologists reported feeling qualified to recommend genetic testing to their patients compared to primary care physicians (OR 6.28, 95%CI 3.77-10.48).
Doksum et al.[47] USA Cross-sectional 2250 obstetric gynecologists, oncologists and internists 803 (40) Not assessed. 93% of oncologists, 75% of obstetric gynecologists and 60% of internists could identify the autosomal inheritance pattern of hereditary breast cancer. Not assessed – although oncologists were 3 times more likely to order BRCA testing for a patient if they have a genetic professional to whom they can refer patients to (OR 2.76, 95%CI 1.15-6.64). Oncologists were more knowledgeable about cancer genetics and cancer risk assessment than primary care physicians, and had ordered a BRCA test either directly from a laboratory or through a genetic professional for a patient.
McCann et al.[48] Ireland Cross-sectional 1079 general practitioners 541 (50) Not assessed – although 88% agreed that their role was taking a family history. Indirectly assessed – male physicians were more dissatisfied with their genetic knowledge in breast and ovarian cancers than female physicians (p=0.001). Not assessed. Female general practitioners were more likely than males to feel confident in taking a family history and making referral decisions.
Batra et al.[21] USA Cross-sectional 815 gastroenterologists 258 (35) 99% obtained a family history from their patient consisting of first-degree relatives (parents, siblings and children); 76% included second-degree relatives (grandparents, aunts and uncles) as part of the family history; 39% obtain a family history that includes first, second and more distant third-degree relatives. 79% could identify a family history consistent with Lynch syndrome. 95% were aware of cancer genetic consultation; 52% were aware of genetic testing for familial adenomatous polyposis but only 34% for Lynch syndrome. 51% would refer to a genetic counselor prior to providing genetic testing, and 38% would send samples to a laboratory. Cost of testing was a concern for physicians when they refer patients.
Wilkins-Haug et al.[22] USA Cross-sectional 1248 obstetric gynecologists 564 (45) 78% asked for patients’ family histories at initial visits. 24% do not routinely review family history at clinic visits. Physicians use family histories to assess the risk of breast cancer (95%), ovarian cancer (94%), and other cancers (87%). Not assessed. 93% were aware of genetic testing for breast cancer; 60% were aware of genetic testing for colon cancer, and 22% were not aware of genetic testing for colon cancer. Not assessed.
Menasha et al.[49] 2000 USA Cross-sectional 363 primary care physicians, oncologists, gastroenterologists, obstetric gynecologists, cardiologists, pulmonary medicine, geriatrics and neurologists 89 (26) Not assessed. Indirectly assessed – 71% rated their knowledge of genetics and genetic testing as "fair" to "poor". 77% were aware of the availability of genetic testing for breast cancer; 91% were aware of the existence of genetic consultation services; 71% were aware of the services available at major New York medical services. 98% would refer a patient to a genetic counselor.
Escher & Sappino [50] Switzerland Cross-sectional 400 primary care physicians, obstetric gynecologists and oncologists 259 (65) Not assessed. 19% could identify the risk of developing breast cancer for BRCA mutation carriers; 45% could identify the autosomal dominant inheritance pattern of breast cancer Not assessed. 98% would refer for genetic testing at patient’s request.
Acton et al.[23] USA Cross-sectional 1148 primary care physicians, obstetric gynecologists, and internists 254 (22) 94% asked new patients about family history of cancer; 71% obtained family history of cancer for four generations, but were less likely to ask about children, aunts, uncles, great-aunts and uncles; 52% updated history annually or when a family member was discovered to have cancer; 46% discussed family history of cancer when the patient was diagnosed with cancer. Not assessed. Not assessed. <20% had referred patients for genetic testing. Obstetric gynecologists referred more patients for cancer genetic testing than the others (p=0.008).
Fry et al.[31] UK Cross-sectional 670 general practitioners 397 (59) Not assessed. 53% overestimated the low-risk group as high-risk for breast cancer. 54% underestimated the high-risk group as moderate-risk group for colon cancer. Not assessed. 67% would refer high-risk patients to specialist genetic services; 58% for breast screening; 45% for other services.
Hayflick et al.[24] USA Cross-sectional 4824 primary care physicians, family physicians, obstetric gynecologists, pediatricians, and internists 1642 (34) >95% routinely asked about family history of breast cancer; >80% asked about ovarian cancer. When family history of breast or ovarian cancer was identified, 80% of internists and obstetric gynecologists completed a 2- or 3-generation pedigree. Not assessed. 25% of internists did not know if genetic consultation was available; 15% of internists knew of no available services and reported no need for additional genetic services. 3% of internists and 27% of obstetric gynecologists would refer patients for genetic counseling; 20% of both groups to other consultant. The most common reason for referral for genetic services was patient’s interest. Family physicians and obstetric gynecologists usually referred patients for prenatal genetic screening.
Friedman et al.[55] USA Cross-sectional 350 primary care physicians, obstetric gynecologists, general surgeons and pediatricians 101 (30) Not assessed. Not assessed – although 29% have discussed breast cancer genetic screening with patients, 19% on ovarian cancer genetic screening, and 16% on colon cancer genetic screening 30% wanted to make a referral but no services were available.  Unavailability of genetic testing (55%) and genetic counseling (46%) were considered barriers to genetic testing. 19% had referred a patient for genetic services. 64% would consider BRCA1/2 genetic screening for patients and 31% for HNPCC. 69% considered cost of genetic testing a barrier to use of genetic testing.
Rowley et al.[51] USA Cross-sectional 124 obstetric gynecologists 64 (56) Not assessed. 61% could identify the autosomal dominant inheritance pattern as features of breast cancer; 79% could identify ovarian cancer as the type of tumor commonly found in families with breast cancer; only 36% recognized multiple primary breast cancers as a feature. Not assessed. Not assessed.
Singh et al.[8] USA Chart review 499 colorectal cancer patients Not applicable. 55% of patients with family history of some type of cancer were recorded; 32% family history was absent; 8% had no available documentation regarding cancer; 5% of patients were uncertain of family history; 56% age of affected first-degree relative undocumented; 71% age of affected second-degree relative undocumented. Not assessed. Not assessed. 7% of patients who met the revised Bethesda guidelines were referred for genetic evaluation
Murff et al.[25] USA Chart review 995 patients at high risk for colon and breast cancer Not applicable 679 (68%) had some form of family history of cancer recorded. 62% documented the affected individuals. 39% recorded age at diagnosis of first-degree relatives’ vs. 16% of second-degree relatives. 79% recorded age at diagnosis of first-degree relatives with colon cancer, 61% recorded age at diagnosis of first-degree relatives with breast cancer, 60% recorded age at diagnosis of first-degree relatives with ovarian cancer, and only 4% recorded age at diagnosis of first-degree relatives with Lynch-associated cancers. Indirectly assessed – 2 patients had ≥3 relatives with Lynch-associated cancers were not referred, and only 5 of 6 patients who met criteria for referral for early-onset breast cancer (BRCA1) was not referred for genetic services. Not assessed. Only 17% of individuals who meet criteria for early onset breast cancer genetic testing were referred for genetic services.
Grover et al.[26] USA Chart review 387 colorectal cancer patients Not applicable. 97% documented some sort of family history. 59% documented a comprehensive family history for patients with a first- or second-degree relative with cancer; the accuracy of family history collected decreased with increasing number of cancers per family (p<0.0001). Indirectly assessed – only 17% (13/75) patients who had personal or family histories that met the Bethesda criteria were referred for genetic assessment.    Not assessed. Only 17% (13/75) of patients who had personal or family histories that met the Bethesda criteria were referred for genetic assessment.
Al-Habsi et al.[27] UK Mixed-method 54 general practitioners 36 (64) 39% would initiate discussion if they knew patients had a significant family history of cancer; 53% asked about the diagnosis or type of cancer when consulted by asymptomatic patients, 50% asked about the age of onset of cancer; 44% asked about who was affected; 33% asked about the number of affected relatives. Physicians lack confidence in taking family history details, and did not know the right type of information to collect. Lack of knowledge in genetics cited as one of the reasons for not taking a proper family history. 92% did not know, or know very little, about their local genetics centre and the services it provided. 69% would usually refer patients to a diagnostic clinic; 31% would usually refer patients to a genetics clinic. 89% patients initiated the discussion of family history of cancer which led to a genetic referral. Direct referral to the genetics clinic was made if the patient requested the referral. Referral was also determined by the type of cancer in the family history.
Mountcastle-Shah and Holtzman[56] USA Mixed-method 994 primary care physicians, obstetric gynecologists, and pediatricians invited for semi-structured interviews; 752 invited for survey 222 (22) responded, only 60 were interviewed; 100 (13) for survey Not assessed. Not assessed. 90% were aware of genetic testing for hereditary breast-ovarian cancer. 35% interviewees had either ordered or referred a patient for BRCA testing. Obstetricians were the most likely to refer compared to family physicians. Patient interest
Burke et al.[28] USA Observational -unannounced standardized patient 637 family physicians and internists 86 (14) 48% collected sufficient family history to assess breast cancer risk from a moderate risk patient; 100% from a strong maternal family history of breast cancer; 45% from a strong paternal family history of breast-ovarian cancer. 60% could identify moderate risk patients; >70% could identify high risk patients but degree not specified. Not assessed. Referral for moderate risk, high risk (maternal), high risk (paternal) to a medical geneticist: 24%, 29%, and 9%, respectively. Referral for moderate risk, high risk (maternal), high risk (paternal) to non-geneticist: 0%, 46%, and 9%, respectively.
Carroll et al.[52] Canada Qualitative 40 rural and urban family physicians 40 (100) Not assessed – although physicians thought they play an important role in cancer risk assessment. Physicians indicated lack of knowledge about hereditary cancer and the indications for genetic testing. Not assessed. An average of 2 patients were referred to familial cancer clinics in the last year
Abbreviations: OR odds ratio; 95%CI 95% confidence interval; HBOC hereditary breast-ovarian cancer; HNPCC hereditary non-polyposis colorectal cancer; BRCA1/2 breast cancer gene 1 or 2; MMR mismatch repair gene.
Table 1: Table of evidence of reviewed studies