Family Practice Vol. 16, No. 1, 78-83
© Oxford University Press 1999
Family history taking and genetic counselling in primary care
a ICRF General Practice Research Group, Division of Public Health and Primary Health Care, Oxford,
b General Practice, Benson, Oxfordshire,
c Health Visitor, Benson, Oxfordshire and
d Dept of Clinical Genetics, Oxford Radcliffe Hospital, Oxford, UK.
Dr Peter Rose, Mill Stream Surgery, Benson, Oxfordshire OX10 6RL, UK.
Rose P, Humm E, Hey K, Jones L and Huson SM. Family history taking and genetic counselling in primary care. Family Practice 1999; 16: 78–83.
Received 10 June 1998; Accepted 7 October 1998.
 |
Abstract |
|---|
 Top Abstract BackgroundMethodsResultsReasons for attendanceDiscussionConclusionReferences |
|---|
Objectives. We aimed to evaluate the feasibility and acceptability of taking routine family histories and subsequent counselling.
Methods. The study was set in primary care in the UK. The subjects were patients between the ages of 20 and 34 years registered at one general practice. Patients were invited by letter to attend a clinic in their GP surgery, run by a GP and health visitor. A family history was constructed and counselling undertaken for any identified problems. A telephone survey of a sample of non-attenders was also performed. The outcome measures were attendance rate, patient views, patient anxiety as measured by the short form of the Spielberger State–Trait Anxiety Inventory and referrals to secondary care.
Results. In total, 16.1% patients attended the clinic; 40.3 % had a family history of at least one disease with a possible genetic component. Anxiety levels fell immediately after the consultation and rose to pre-clinic levels at 12 weeks. The clinic generated three referrals to secondary care and a further seven patients who were counselled by the investigators following advice from a consultant geneticist.
Conclusions. It is possible to take detailed family histories and provide genetic counselling advice in primary care with minimal training of clinical primary care staff. The service is acceptable to patients, does not induce anxiety and has little effect on numbers of patients referred.
Keywords. Family history, genetic counselling, pedigree, primary care..
|
Background |
|---|
|
TopAbstractBackgroundMethodsResultsReasons for attendanceDiscussionConclusionReferences |
|---|
The increase in molecular biological knowledge is beginning to have implications for clinical medicine, especially clinical genetics. For example, the identification of genes for Huntington's Disease, Duchenne muscular dystrophy, cystic fibrosis and some forms of familial breast cancer has resulted in presymptomatic and carrier tests becoming available. The role that primary care might adopt to help patients with a genetic problem has been discussed previously,1,2 and a report on the provision of genetic services3 has noted that regional services will need to be complemented by appropriate expertise and service arrangements in primary care. If genetic counselling follows the pattern of other clinical management development, for example hypertension, diabetes mellitus and contraception, it is likely that a large proportion of this work will eventually be undertaken in primary care.
There have been some reports about the development of genetic services in primary care but these have tended to focus on carrier screening, particularly for cystic fibrosis.4–7 These studies showed that screening was acceptable to women,4 not prohibitively time-consuming4 and did not produce any psychological sequelae.6 The uptake of screening was better with an opportunistic invitation rather than an invitation by post.7 There has been very little research about other types of genetic service development or their acceptability to patients. However, if people are to be offered screening for genetically determined disease, most would prefer to have the tests in their own surgery.6 The role of primary care is likely to include taking a detailed family history (pedigree), recognizing clues that signify an increased genetic risk, referring patients appropriately and educating and informing patients about genetic issues.2 One report of the use of family history taking in primary care8 showed that GPs felt that the family history had value as an aid to decision-making, but its current use in primary care was erratic.
We report our experience of introducing a clinic with an emphasis on family history problems and preconceptual counselling in a two-doctor rural practice in South Oxfordshire.
|
Methods |
|---|
|
TopAbstractBackgroundMethodsResultsReasons for attendanceDiscussionConclusionReferences |
|---|
All patients in the practice between the ages of 20 and 34 years inclusive were invited by letter to attend a special clinic to discuss genetic and preconceptual issues where appropriate. This age range was chosen to span the childbearing years, in order that a discussion of genetic issues could have potential benefits to pregnancy planning as well as the patient's own health. The letter was accompanied by a leaflet containing a brief explanation of genetics and its increasing importance to medical care. Patients were encouraged to attend with their partner, even if the partner was not registered with the practice. Women currently pregnant were excluded. A second letter of invitation was sent to non-attenders after 6 months. Some patients were referred to the clinic opportunistically by members of the practice if the patient presented with a family history problem.
The clinic was run by a GP (PR) and a health visitor (EH). The health visitor had previously worked as a clinical nurse specialist in genetics. The GP had no formal training in genetics. He attended three consultant-run genetics clinics and rehearsed the consultation with three volunteers as preparation for the clinic. The doctor and health visitor had access to two standard genetics textbooks for use during the consultation (Harper PS, Practical Genetic Counselling, Butterworth Heinemann, 1981, and Hodgson SV, Maher ER, A Practical Guide to Human Cancer Genetics, Cambridge University Press, 1993). A consultant geneticist (SMH) evaluated the first 10 family histories that each investigator produced according to a predetermined schedule to check the pedigree and advice given.
The clinic appointment lasted 30 minutes and covered a range of topics including the implications of family history for life insurance, preconceptual and reproductive issues, and the prevention of cancer and cardiovascular disease. A family history was taken and any significant findings were discussed. The family history included three generations (or four if the patient had children) including first and second-degree relatives. The patient's partner's side of the family was included if appropriate. The information was recorded on a pro forma. Patients with a positive family history were defined as those with one first-degree or two second-degree relatives or themselves having a history of a disease with a known genetic basis. This definition is similar to the one used by Scheuner et al.9 We counted a family history of cardiovascular disease as positive only if the affected person presented before the age of 60 years, as was standard practice in primary care at the time.
Patients completed the short form of the state scale of the Spielberger State–Trait Anxiety Inventory (STAI)10 immediately before and after the consultation and again 12 weeks later. They also completed a questionnaire after the consultation which comprised both open and closed questions. This elicited their prior views about genetic medicine and their views on the consultation as a whole, and assessed what they had learnt from the consultation. A sample of non-attenders was interviewed by telephone using a semi-structured questionnaire to ascertain their reasons for non-attendance and views about the clinic.
Analysis of results
The outcomes that were analysed were as follows:
- (i) The uptake of the service, the reasons why some people attended the clinic and the prevalence of identified problems in the target population.
(ii) The feasibility and resulting workload implications, both within the practice and for secondary care.
(iii) An assessment of the prior knowledge of genetics and the knowledge gained by the attenders.
(iv) The acceptability of this service to patients.
(v) A study of a sample of non-attenders.
Data were analysed using Epi-INFO and SPSS for windows. Anxiety scores at the three time points were compared using repeated-measures analysis of variance; scores at two time points were compared using the paired t-test.
|
Results |
|---|
|
TopAbstractBackgroundMethodsResultsReasons for attendanceDiscussionConclusionReferences |
|---|
At the start of the study there were 361 men and 441 women registered with the practice in the target age group. Of these, 15 men and 18 women were known to have moved at the time of the first invitation and a further 61 men and 52 women had moved by the time that the letters of invitation to telephone interview (to non-attenders) were sent. One hundred and twenty-four patients attended the clinic between September 1995 and March 1997 (16.1% of the original population and 18.9% of those still registered 7 months later). Of those attending, six patients were not registered with the practice and 27 patients fell outside the target age range, mainly because they came with their spouse. In total, 73 women and 51 men attended the clinic; 40 couples came together. One hundred and five (84.7%) patients came as a result of the letter invitation, three (2.4%) came following the telephone call to a sample of non-attenders and nine (7.3%) were sent opportunistically by a member of the practice (information was not recorded for seven patients).
|
Reasons for attendance |
|---|
|
TopAbstractBackgroundMethodsResultsReasons for attendanceDiscussionConclusionReferences |
|---|
Patients attended the clinic for a number of reasons (Table 1
). The most common reason for attendance was planning a pregnancy, which was mentioned in the invitation letter as a specific reason to be interested in the consultation. Most other reasons were related to concerns about inherited disease.
|
Fifty patients (40.3%) attending had one or more diseases in their family history with a genetic component which could have an effect on their own health or that of their children (Table 2
). Only two of these were single gene disorders, but neither patient was aware of the possible effect on their own health. The balanced chromosome translocation was known and had been discussed with a clinical geneticist before this consultation. None of the patients with a family history of cancer fulfilled the criteria for referral set out in the Oxfordshire guidelines because of a potentially significant increased lifetime risk. The other conditions were multifactorial and the risk was evaluated from empirical data provided in Harper's textbook, Practical Genetic Counselling.
|
The 20 pedigrees checked by the geneticist (SMH) were comprehensible and contained sufficient information to make interpretation possible. The outcome of these consultations and advice given were satisfactory. The total consultation took at least 30 minutes and about 10 minutes were spent recording each family history.
The clinic resulted in two referrals to a consultant clinical geneticist (a patient with a complicated family history of cancer and the patient with multiple relatives with congenital abnormalities) and one referral to a consultant surgeon (for advice on screening for bowel cancer). The clinical geneticist (SMH) was contacted by telephone or fax for advice on a further seven patients, as a result of which they could then be counselled in the surgery. Therefore, a total of nine out of 124 patients (7.3%) seen needed input from secondary care.
Patient awareness, understanding and anxiety
Sixty-three (50.8%) patients said that they thought genetic advice might be important for them before they attended the clinic, 26 (21.0%) said that they did not think it would be important and the remainder were unsure. Twenty-eight (22.6%) patients felt that they knew a lot or quite a lot about genetics and the way it could affect their health before they came, 85 (68.5%) felt they knew a little and 11 (8.9%) felt that they knew nothing.
The commonest lessons learnt by the patients during the consultation related to pregnancy planning and lifestyle advice (Table 3). However, patients also stated a number of areas related to genetics, in particular an ability to quantify, manage and therefore reduce risk where it was raised or reassurance where the risk was low. Patients who believed that they had a family history of cancer or heart disease were analysed in more detail (Table 4). In each group only about one-third of these patients actually had a significant family history. Of those without significant risk, a large proportion felt reassured by the advice given in the consultation.
|
|
One hundred and nineteen (96%) patients thought that the level of information received was about right. Patients were asked to complete a five-stem multiple-choice question about the inheritance potential of various cancers, which was discussed in each consultation, to measure how much knowledge had been gained. Sixty (48.3%) made five correct responses.
One hundred and twenty-two patients completed the STAI questionnaire immediately before the consultation, 121 immediately after it, and 91 (74.2%) at 12 weeks. There was a significant (P < 0.001) reduction in anxiety straight after the consultation and a return to initial anxiety levels at 12 weeks. Mean (SD) scores at the three time points were: 34.8 (10.4), 30.1 (10.6) and 33.0 (10.0). Similar levels of anxiety were recorded when restrict- ing the analysis to the 89 patients with responses at all three times.
Survey of non-attenders
The survey was conducted 7 months after the initial letters were sent out. Of the patients originally eligible, there were 708 people who were still registered with the practice and had not attended the clinic. We sent letters to every fifth person on this list, informing them that we would like to contact them by telephone (n = 144). We were able to contact 110 patients; 21 were not available when telephoned, eight had moved, we felt it was inappropriate to contact three, one person informed the practice that he did not wish to be telephoned and one person had already made an appointment at the clinic.
Fifty-three (44.9%) patients said that they were not aware of diseases running in their family. Forty-two (38.2%) listed one or more diseases that they thought did run in their family.
Many reasons for not attending the clinic were unrelated to specific genetic issues (Table 5). However, some reasons stated would need to be addressed if further invitations were to be made.
|
Patients were asked if there was anything that they would like to know about the clinic. 104 people made 120 responses, for whom 58 (56%) said no more information was required. Thirty-nine (38%) wanted to know what was involved, 11 (11%) wanted to know the extent of family history knowledge required, five (5%) wanted to know what they might gain personally and three (3%) were concerned that it involved blood tests.
|
Discussion |
|---|
|
TopAbstractBackgroundMethodsResultsReasons for attendanceDiscussionConclusionReferences |
|---|
This is one of the first reports of a genetic counselling service in primary care and the first to report a general service rather than one aimed at offering a specific genetic test.4,7 Although the impact of the New Genetics is beginning to be felt in primary care, the GP's role is still essentially limited to reassurance or referral. This clinic provided a screening service for possible genetic problems through family history taking.
The educational requirements of a GP with no prior genetics expertise were found to be small; both the GP and the health visitor involved quickly learnt to take accurate family histories and make appropriate interpretations based on this. Forty per cent of patients had a potential positive history; these spanned diseases of varying severity, risk and age of onset. However, there was very little increase in the use of secondary care; most of the patients discussed had a family history of multifactorial disorders with a relatively low risk to the patient. A large part of the genetic counselling work involved reassuring patients that they had very little or no extra risk of disease, due to inheritance factors—a theme that is familiar to other primary care work. Problems that could not be dealt with immediately by the primary care counsellors were usually solved by a telephone call to the genetics department. Faxing the pedigree to the genetics department facilitated this process, emphasizing the need to produce a readable pedigree in primary care.
Scheuner et al. 1992,9 found that 32.5% of patients attending a prenatal genetic counselling clinic in America had a significant family history of one or more common genetic diseases (coronary artery disease, hypertension, type II diabetes and familial cancers). The prevalence rate of potential inherited problems in the patients who attended our clinic was also high, which is to be expected in a self-selected population. The severity of the problems presented was variable and it was not possible to confirm in some cases whether the patient was truly at risk. Even if conditions with a complicated aetiology are excluded, for example depression, there still remain a significant number of problems. (In fact, the family history was very strong in the one patient with depression.) The patients who did not attend also had a high incidence of perceived inherited disease. The experience with the patients who did attend would suggest that much of this perception is false.
Overall attendance was low among the invited population. The uptake was similar to that found by Bekker et al. (1993) in response to a letter of invitation to attend a GP surgery for cystic fibrosis carrier screening. The survey of non-attenders showed a number of reasons why patients did not attend. Many of these were the common reasons why patients do not respond to an invitation to a screening clinic. However, a small number of patients highlighted issues that were more specific to genetic services—concerns about genetic tests and that it meant having a blood test, concerns about this information going into medical records, lack of personal knowledge about their family history or feelings that it was only relevant to pregnancy planning. In our original letter, pregnancy planning was mentioned as a benefit of genetic discussions and given as the reason why this age group was targeted.
Unsurprisingly, the patients showed a lack of knowledge about disease inheritance. Many patients felt that they were at risk from inherited disease when they were not, and we found two recurring themes concerning beliefs about cancer inheritance. First, a relative dying of a cancer of any type was interpreted as the patient being at risk of this cancer too. Secondly, cancer was interpreted as a single disease; a number of unrelated cancers in a family was interpreted as a susceptibilty to cancer. Yet the evidence that there are many ‘cancer-prone’ families is not strong.
The patients were pleased to receive this service in primary care and felt that the level of information was appropriate. The genetic inheritance of cancers was discussed in every consultation and there was a good retention of genetic knowledge immediately after the consultation, as tested by a multiple choice question. The counselling delivered was appropriate; many people with worries about a family history stated that they were reassured after the consultation. One of the advantages of primary care being involved in pedigree assessment is that advice given can be reinforced at subsequent consultations. The STAI showed that anxiety was reduced in the short term and that there was no increase of anxiety from this screening and counselling process up to 12 weeks afterwards.
|
Conclusion |
|---|
|
TopAbstractBackgroundMethodsResultsReasons for attendanceDiscussionConclusionReferences |
|---|
It is possible to provide genetic counselling in a primary care setting at the level described here: taking an accurate family history, interpreting this and reassuring those who are not at risk. The population studied showed a concern about inherited diseases which was much greater than was warranted from the family history. Primary care is well placed to offer reassurance to these people after careful evaluation; we would encourage primary care workers to develop these skills without fear that they are difficult or time-consuming to acquire. The role of primary care in this field would be helped by the development of consistent guidelines for referral and a consistent response from secondary care regarding the interventions offered to people of varying risk.
Research is needed to define the role of primary care in providing genetic services and the best ways to educate patients about the relevance of genetic medicine to their health. If primary care is to provide a greater depth of service compared with the one described here, further evaluation will be needed of the educational requirements of the practitioners involved. Research is also needed to evaluate the benefits of screening for inherited problems opportunistically, for example at patient registration checks and antenatal booking appointments, and the identification and follow-up of the families of affected index cases.
|
Acknowledgments |
|---|
Tim Lancaster advised on study design, Ivana Klimes and Sue Ziebland advised on the questionnaires, Pat Yudkin advised on the statistics and Ian Spiers helped with data entry. The clinic was originally set up with help from a grant from Oxfordshire Health Authority.
|
References |
|---|
|
TopAbstractBackgroundMethodsResultsReasons for attendanceDiscussionConclusionReferences |
|---|
1 Qureshi N, Raeburn JA. Clinical genetics meets primary care. (Editorial.) Br Med J 1993; 307: 816–817.
2
Harris R, Harris H. Genetics in primary care. J Med Gen 1996; 33: 346–348.
3 HMSO. Population needs and genetic services. London: HMSO, 1993.
4 Harris H, Scotcher D, Hartley N, Wallace A, Craufurd D, Harris R. Cystic fibrosis testing in early pregnancy by general practitioners. Br Med J 1993; 306: 1580–1586.
5 Magnay D, Wilson O, El Hait S, Balhamar M, Burn J. Carrier testing for cystic fibrosis: knowledge and attitudes within a local community. J R Coll Phys Lond 1992; 26: 69–70.[Web of Science][Medline]
6 Watson EK, Mayall ES, Lamb J, Chapple J, Williamson R. Psychological and social consequences of community carrier screening programme for cystic fibrosis. Lancet 1992; 340: 217–220.[Web of Science][Medline]
7 Bekker H, Modell M, Denniss G et al. Uptake of cystic fibrosis testing in primary care: supply push or demand pull? Br Med J 1993; 306: 1584–1586.
8
Summerton N, Garrood PVA. The family history in family practice: a questionnaire study. Fam Pract 1997; 14: 285–288.
9 Scheuner MT, Raffel LJ, Wang S-J, Larabell S, Rotter J. Importance of family history of common adult disease in the prenatal counseling setting. Am J Hum Genet 1992; 51 (Suppl): A143.
10 Marteau TM, Bekker H. The development of a six item shortform of the state scale of the Spielberger State-Trait Anxiety Inventory. Br J Clin Psychol 1992; 31: 301–306.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  B. J. Wilson, N. Qureshi, P. Santaguida, J. Little, J. C. Carroll, J. Allanson, and P. Raina Systematic Review: Family History in Risk Assessment for Common Diseases Ann Intern Med, November 2, 2009; (2009) 0000605-200912150-00177v1. [Abstract] [Full Text]
|
|
|
|
 |
|
 H. J. Murff, D. R. Spigel, and S. Syngal Does This Patient Have a Family History of Cancer?: An Evidence-Based Analysis of the Accuracy of Family Cancer History JAMA, September 22, 2004; 292(12): 1480 - 1489. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Gramling, J. Nash, K. Siren, C. Eaton, and L. Culpepper Family Physician Self-Efficacy With Screening for Inherited Cancer Risk Ann. Fam. Med, March 1, 2004; 2(2): 130 - 132. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Knottnerus Community genetics and community medicine Fam. Pract., October 1, 2003; 20(5): 601 - 606. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. M Aalfs, E. M. Smets, H. C. de Haes, and N. J Leschot Referral for genetic counselling during pregnancy: limited alertness and awareness about genetic risk factors among GPs Fam. Pract., April 1, 2003; 20(2): 135 - 141. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Elwyn, R. Iredale, and J. Gray Reactions of GPs to a triage-controlled referral system for cancer genetics Fam. Pract., February 1, 2002; 19(1): 65 - 71. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Bankhead, J. Emery, N. Qureshi, H. Campbell, J. Austoker, and E. Watson New developments in genetics--knowledge, attitudes and information needs of practice nurses Fam. Pract., October 1, 2001; 18(5): 475 - 486. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. M Walter, A. L. Kinmonth, F. Hyland, P. Murrell, T. M Marteau, and C. Todd Experiences and expectations of the new genetics in relation to familial risk of breast cancer: a comparison of the views of GPs and practice nurses Fam. Pract., October 1, 2001; 18(5): 491 - 494. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Emery, P. Rose, V. Leggatt, J. Mackay, and J. R W Yates Evaluation of questionnaire on cancer family history in general practice BMJ, January 15, 2000; 320(7228): 186a - 186. [Full Text]
|
|
|
|
|
|
J. Emery, E. Watson, P. Rose, and A. Andermann A systematic review of the literature exploring the role of primary care in genetic services Fam. Pract., August 1, 1999; 16(4): 426 - 445. [Abstract] [Full Text] [PDF]
|
|
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||