Family Practice

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Family Practice Vol. 18, No. 2, 135-140
© Oxford University Press 2001

Guidelines for referral to a regional genetics service: GPs respond by referring more appropriate cases

Anneke Lucassen, Eila Watson^,a, Jean Harcourt^,b, Peter Rose^,b and Jane O'Grady^,c

Department of Clinical Genetics, Churchill Hospital,
^a CRC Primary Care Education Research Group, Department of Primary Health Care, University of Oxford, Institute of Health Sciences,
^b ICRF General Practice Research Group, Department of Primary Health Care, University of Oxford and
^c Department of Public Health, Oxfordshire Health Authority, Old Road, Headington, Oxford, UK.

Anneke Lucassen, Department of Clinical Genetics, Princess Anne Hospital, Southampton SO16 5YA, UK. Email: annekel{at}soton.ac.uk

Lucassen A, Watson E, Harcourt J, Rose P and O'Grady J. Guidelines for referral to a regional genetics service: GPs respond by referring more appropriate cases. Family Practice 2001; 18: 135–140.

Received 2 May 2000; Revised 23 August 2000; Accepted 30 October 2000.

	Abstract

Top Abstract Introduction Methods Results Discussion Appendix 1 Referral guidelines... References

 
Objectives. The aim of this study was to see whether guidelines on whom to refer to a regional genetics service could improve the appropriateness of referrals to the service. It also aimed to assess whether the genetic clinic assessment of risk agreed with that described in the GP letter.

Methods. Referral guidelines were sent to all Oxfordshire GPs and the subsequent content of the referral letters was analysed. A retrospective assessment of referral letters sent during the 6 months before dissemination was also made.

Results. The study showed that post-guidelines, fewer ‘lower risk’ referrals were made and that the description of the risk in the GP letter improved, so that a greater proportion of genetic clinic risks agreed with those described in the GP letter.

Conclusion. The use of referral guidelines can help GPs to act as gatekeeper for referrals to secondary care.

Keywords. Cancer genetics, family history, primary care, referral guidelines, risk assessment.

	Introduction

Top Abstract Introduction Methods Results Discussion Appendix 1 Referral guidelines... References

 
Growing public awareness of the genetic component of some common diseases, together with advances in the potential for predictive genetic testing, has led to an increase in the number of referrals to many clinical genetics centres. In particular, referrals for assessment of a family history of cancer have increased. For example, the Oxford Regional Genetics Service (ORGS) received 30 such referrals in 1991, and by 1999 these had risen to 965. The commonest referrals are for an assessment of the risk of breast (and/or ovarian cancer) or bowel cancer family history. In the ORGS, this has placed an unsustainable demand on resources and has led to a marked increase in the waiting lists.

Although in some families the family history indicates that a deleterious genetic factor is travelling through successive generations, sporadic cancers are far more common than inherited cancers and, as the former are common, it is possible to have a degree of family history through chance alone. Many referrals appeared to fall into this latter category (with a departmental audit study confirming this), and thus guidelines were devised to suggest which types of family history might confer a ‘higher risk’ and which might thus benefit from a referral to the genetics service. Where family histories did not meet the referral criteria, a patient was highly unlikely to have inherited a cancer-predisposing gene and the only intervention the ORGS could offer was reassurance. No screening would be offered to this group. We hypothesized that the primary health care team are better positioned to provide this. Referral to secondary care may per se increase anxiety, and thus we argued that providing guidance to primary care on which individuals may benefit from referral to secondary care would allow management of low risk individuals in the more appropriate setting of primary care.

Previous studies have shown that GPs want education on how to make appropriate referral decisions¹ and that GPs have difficulty with referral decisions unless the risk is very low or very high.² The main aim of this study was to assess how local guidelines helped GPs in their role as gatekeeper to secondary care referrals.

	Methods

Top Abstract Introduction Methods Results Discussion Appendix 1 Referral guidelines... References

 
Guidelines for the referral of patients to the ORGS family cancer clinic were drawn up after discussion with local GPs, surgeons, radiologists, gynaecologists, public health physicians and geneticists. Where available, evidence from national consensus was also incorporated. Appendix 1 shows a copy of the guidelines that were circulated. The guidelines were designed to distinguish between ‘lower risk’ families and ‘higher risk’ families. ‘Higher risk’ families include both the moderate and high risk categories suggested by some authorities (for example, reference³) as the ORGS had acted as the referral point for both these categories to date. ‘Lower risk’ was defined as those at <1 in 10 chance of having a dominant cancer-predisposing gene or a <3-fold increased risk (relative to a woman in the general population) of developing breast cancer by the age of 50. ‘Higher’ risk was defined as anything above this risk.

Guidelines were sent to all GPs in Oxfordshire by the Oxfordshire Health Authority. There was no active dissemination of guidelines to the other three counties covered by the ORGS, although they were supplied on request. All referrals to the department were analysed for an 8-month period after dissemination, and a retrospective assessment of the referrals to the department in the 6 months prior to guidelines was also made. Patients were categorized as ‘did not meet referral criteria’ (‘lower risk’) or ‘met referral criteria’ (‘higher risk’), depending on whether or not they met the family history referral criteria. Where there was insufficient information in the letter, patients were categorized as ‘can't tell’. A qualitative assessment was made of the reasons listed for referral, such as ‘anxiety’, ‘for reassurance’, ‘for genetic testing’, ‘for mammography’, ‘considering prophylactic surgery’ or ‘concern about HRT (hormone replacement therapy) or OC (oral contraceptive) usage’.

Patients who fulfilled the criteria, or where GPs stated that the patient was very anxious in the referral letter, were seen by the ORGS, and a detailed family history was taken and family tree drawn up. Confirmation of the diagnoses given was sought through histology reports after consent was obtained from the appropriate relatives. Where these proved to be erroneous, risk assessments were altered. The probability that a particular family history was due to the inheritance of a cancer-predisposing gene was then calculated using the computer programme Cyrillic for breast and ovarian cancer.⁴ This is a pedigree program that calculates the risk of diseases such as breast cancer using the CASH study dataset—an American case–control study of breast, ovarian and endometrial cancer.⁵ For bowel cancer, family history empiric risk estimates were made using the data of Houlston et al.⁶ An ORGS risk of low, moderate or high was ascribed to the patient following this assessment. For the purposes of this study, we wanted to distinguish between low and moderate/high rather than between the latter two since both these are usually seen in secondary care whilst low risk are not. For simplicity, we have used two ORGS risk categories: ‘low’ and ‘high’ where the latter includes moderate and high risk. We examined what effect the referral guidelines had on the relationship between the risk described in the GP letter and that following ORGS assessment.

	Results

Top Abstract Introduction Methods Results Discussion Appendix 1 Referral guidelines... References

 
Table 1 shows the risk according to the content of the referral letter, pre- and post-guidelines. There are statistically significant differences in the distribution of risk categorizations by GPs before and after they received the referral guidelines (chi square for difference before and after guidelines = 16.9, P < 0.0001). Post-guidelines, more referrals met the referral criteria (chi square for the percentage who met the referral criteria versus the percentage who did not or can't tell before and after guidelines = 15.79, P < 0.0001) and they were more informative since there were fewer ‘can't tell’ referrals (chi square for the percentage can't tell versus can tell before and after guidelines = 9.4, P = 0.002).

View this table: [in this window] [in a new window]   TABLE 1 Risks according to the content of the GP referral letter

 
ORGS risk assessment
We compared the risk described in GPs' letters with the risk after assessment by ORGS, to see whether the increase in ‘higher risk’ (or ‘met referral criteria’) GP letters post-guidelines reflected a true increase in the number of high risk referrals, or whether referrals were more likely to appear high risk, but be low risk after assessment by ORGS.

Table 2 shows that where the GP letter met the referral criteria pre-guidelines, 16/32 (50%) had a ‘high risk’ after ORGS assessment, whilst this figure increased to 48/64 (75%) (chi square for = 6, P = 0.01) post-guidelines (columns 5 and 6, Table 2). Where the GP letter did not meet the referral criteria, 3/33 (9%) had a high risk after ORGS assessment pre-guidelines, whilst post-guidelines this figure decreased to 0/26 (0%). Overall (i.e. regardless of the risk described in the GP letter), 34% of letters (36/103) were ORGS ‘high risk’ pre-guidelines, whereas 47% (52/110) were ORGS ‘high risk’ post-guidelines. Conversely, the low risk percentage fell from 54% (56/103) to 42% (46/110) post-guidelines. These overall differences are not statistically significant (chi square for change in proportion of low risk pre- and post- = 1.34, P = 0.24; for high risk = 3.33 P = 0.07) but the numbers are small. The patterns were the same for referrals concerning a family history of breast, bowel or ovarian cancer. The remainder (11%) of cases both pre- and post-guidelines were not assessed by the ORGS since patients either did not respond to the family history questionnaire sent, or did not attend an appointment.

View this table: [in this window] [in a new window]   TABLE 2 Distribution of risk after assessment by the ORGS before and after guidelines

 
Referrals from GPs outside Oxfordshire but within ORGS
We also analysed 94 referrals before and 92 referrals after guidelines over the same time period from non-Oxon GPs to whom guidelines had only been sent on an ad hoc basis (if requested, or sent when returning inappropriate referral). There were no significant differences in the patterns of referrals over the same time period and no significant differences in the risk distributions as assessed by ORGS (data available on request).

Reasons stated for referral
The commonest single reason (other than for general advice) explicitly stated in the referral letter was for advice on HRT or OC usage and how this interacted with family history (58 out of 213 letters). Requests for mammography/examination or ‘screening’ were stated in 31/213 letters. Three letters specifically requested genetic testing; all three turned out to be cases where this was not possible in the current circumstances. Two letters stated that the patient was considering prophylactic mastectomy. Both turned out to be at low genetic risk. Thirty letters asked for reassurance or mentioned that the patient was anxious. There were no significant differences in these reasons before and after referral guidelines.

	Discussion

Top Abstract Introduction Methods Results Discussion Appendix 1 Referral guidelines... References

 
Systematic reviews have indicated that guidelines to health care professionals can be effective in promoting change in health care practice.^7,8 These guidelines were designed to be sensitive rather than specific, and we therefore expected to see some referrals that met the referral criteria turning out to be ‘low risk’ after assessment by the ORGS. This is mainly because it is difficult to list all the possible family history structures that may put a person at risk, since risk varies according to numbers of affected relatives, their degree of relatedness and the ages of onset of the cancers. We were interested to see that post-guidelines there were no referral letters which did not meet the referral criteria (‘lower risk’) which turned out to be high risk after assessment by the ORGS. Thus the guidelines ensured that all moderate/high risk family histories were referred on to secondary care.

The guidelines were also developed as an educational tool, since although referrals to the ORGS are increasing rapidly, genetics contributes only a small proportion of the average GP's workload. We wondered whether a greater proportion of the ‘low risk’ GP letters post-guidelines expressed concern about anxiety (since this could be an important reason why GPs refer on to secondary care despite the patient being at ‘low risk’). No significant differences were found, but this may be due in part to the fact that this qualitative assessment was difficult to make. Anxiety was referred to in a number of different ways (e.g. ‘the patient is somewhat concerned’, ‘has some anxiety’) and it was difficult to rate anxiety from these subjective descriptions. Similarly, there were no significant differences in the other reasons stated for referral such as advice on OC or HRT usage, before and after guidelines. It is clear (see also the accompanying paper by Watson et al.) that there is still scope for improving GPs' knowledge and understanding of this new field of cancer genetics.

The results of this study show a significant change in the quality of referrals pre- and post-guidelines, resulting in improvements in the secondary care genetics service: the ORGS could focus more on seeing high risk patients and allow low risk patients to be reassured in the primary care setting. GPs also responded to the guidelines by sending more detailed referrals with a better description of the family history (i.e. more can tells than can't tells). They also referred a greater proportion of cases which were assessed to be high risk by the genetic clinic. These changes were not seen over a similar time period in the other districts covered by the ORGS that were not sent the guidelines.

	Appendix 1 Referral guidelines sent out to all Oxfordshire GPs

Top Abstract Introduction Methods Results Discussion Appendix 1 Referral guidelines... References

 
OXFORD REGIONAL GENETICS SERVICE

Guidelines for referral to the Family Cancer Clinic

A small percentage of cancers of the breast, ovary or colon are due to an inherited predisposition. For somebody who has several, closely related, relatives with cancer, who were affected at a relatively young age, the chances of this cancer being due to a strong genetic predisposition increases. The genes causing such predisposition are dominant, so the child of a person with an inherited type of cancer will have a 50% chance of inheriting the gene.

The family cancer clinic is part of the Oxford Regional Genetics Service. It can assess the risk of cancer based on family history and recommend screening strategies where appropriate.

The following guidelines were devised to suggest who might be at increased risk of an inherited form of cancer. They are intended to be sensitive rather than specific; after full assessment of the family history, some families who fulfil the criteria will still turn out to be at low risk.

BREAST CANCER

• 4 or more relatives with breast cancer at any age
  
• mother or sister affected below the age of 40
  
• 2 close* affected relatives, both affected below the age of 50
  
• 3 close* relatives affected below the age of 60
  
• 1 close* relative with bilateral breast cancer
  
• A family in which 2 breast and 1 ovarian cancers occur together in close* relatives (since one of the breast cancer predisposing genes can also predispose to ovarian cancer)
  
• 1 close* male relative with breast cancer at any age.
  

N.B. breast cancer can also be inherited through the paternal side of the family.

OVARIAN CANCER

• 3 or more close* relatives affected with ovarian cancer at any age
  
• 2 close* relatives affected below the age of 60
  
• Family history of both breast and ovarian cancer in close relatives.
  

COLON CANCER

• 3 or more close* relatives with colon cancer at any age
  
• 2 close* relatives affected below the age of 60
  
• 1 close* relative affected below the age of 45.
  

"RELATED CANCERS"

There are some very rare cancer syndromes (e.g. Li Fraumeni syndrome, Cowden and Lynch family cancer syndrome) where a variety of different cancers occur within a family. These syndromes should be considered if 3 or more cancers of the following types are seen in close* relatives, affected below the age of 60.

e.g. BREAST, OVARY, ENDOMETRIUM, COLON, PROSTATE, PANCREAS, MELANOMA, THYROID, CHILDHOOD SARCOMA

* close relative means at least one 1^st or 2^nd degree relative. A first degree relative is a parent, brother, sister or child. A second degree relative is a grandparent, aunt, uncle, nephew or niece (not cousin).

What the Genetics clinic can offer

• Time to discuss issues at length. Cancer genetic appointments are usually made for 45–60 minutes.
  
• Accurate assessment of cancer risk. Family pedigrees are constructed. Details of the cancers and ages of onset in the family are taken and a calculation of the risk can be made with the use of a specific computer program.
  
• Where possible, full diagnosis and histology in relatives with cancer will be confirmed by
  • obtaining copies of reports (following consent of the appropriate relative, or from cancer registries after death)
    
  • follow up of other family members at high risk where appropriate.
    
  
  
• Storage of DNA from affected individuals, organization of molecular genetic testing, entry onto genetic register, where appropriate.
  
• Discussionof the advantages and disadvantages of screening options and possible preventative measures with recommendations based on the level of genetic risk:
  

For Breast Cancer

Women are categorized into low, moderate or high genetic risk groups (0–10%; 10–25%; >25% risk of being a gene carrier, respectively) based on the details of their family history.

No extra screening would be offered to the low risk group.

• Mammography. For women at moderate or high genetic risk we would recommend a mammogram every 2 years from the age of 35, i.e. earlier than the National Breast Screening programme allows. Although there is no clear evidence on the benefit of mammography for the under 50s, and there is a slight theoretical risk from radiation itself, at present it is felt that the benefits of mammography to those at high or moderate genetic risk outweigh the disadvantages.
  
• Regular breast examination. For high genetic risk we would recommend annual examination at a breast clinic.
  
• Recruitment to research studies, for example the Tamoxifen prevention trial can be discussed.
  
• Where there is a high genetic risk, discussion of the advantages and disadvantages of the following:
  • Bilateral mastectomy
    
  • Oophorectomy (since one of the breast cancer genes can also predispose to ovarian cancer)
    
  • Gene tests may be available for a very small proportion of families.
    
  
  

For Ovarian Cancer

• There is insufficient evidence to suggest that screening by pelvic ultrasound or CA125 is effective in reducing the mortality of ovarian cancer. Pelvic ultrasound and CA125 will only be offered to those women eligible for the UKCCCR study of ovarian screening.
  
• Oophorectomy for those at high genetic risk will be discussed if a woman is perimenopausal and has completed her family.
  

For Colon Cancer

• Colonoscopy from the age of 25 for those with >10% lifetime risk of developing colorectal cancer.
  
• Gene testing may be possible in high risk families for Familial Adenomatous Polyposis Coli (FAP) and for Hereditary non-polyposis coli (HNPCC).
  

	References

Top Abstract Introduction Methods Results Discussion Appendix 1 Referral guidelines... References

 
¹ Watson EK, Shickle D, Qureshi N, Emery J, Austoker J. The ‘new genetics’ and primary care: GPs' views on their roles and educational needs. Fam Pract 1999; 16: 420–425.[Abstract/Free Full Text]

² Rose PW, Watson EK, Yudkin P, et al. Referral of patients with a family history of breast/ovarian cancer—general practitioners' knowledge and expectations. Submitted.

³ Report of the consensus meeting on the management of women with a family history of breast cancer. Wellcome Trust, 1998.

⁴ Cherwell Scientific Publishing Ltd. Cyrillic Version 2.1. 1997.

⁵ Claus EB, Risch N, Thompson WD. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 1991; 48: 232–242.[Web of Science][Medline]

⁶ Houlston RS, Murday V, Slack J. Screening and genetic counselling for relatives of patients with colorectal cancer in a family cancer clinic. Br Med J 1990; 301: 366–368.

⁷ Mandelblatt J, Kanetsky PA. Effectiveness of interventions to enhance physician screening for breast cancer. J Fam Pract 1995; 40: 162–171.[Web of Science][Medline]

⁸ Grimshaw J, Russell IT. Effect of clinical guidelines on medical practice: a systematic review of rigorous evaluations. Lancet 1993; 342: 1317–1322.[Web of Science][Medline]

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