GENETICS GREEN PAPER: ADVISORY PANEL
PAPER FROM MS P GUILBERT
GENETIC SERVICE DELIVERY BY NON-SPECIALISTS
It is widely acknowledged that it will be desirable and necessary for non specialist health professionals to become involved in enabling wider access to genetic information so that patients can make informed choices and decisions (eg Kinmonth et al. 1998). It is not always recognised that to ensure accessibility and utilization of the information requires more than just a reasonable genetic knowledge base on the part of the professional. Attitude and counselling skills and the time to use them will also be necessary, as well as an alertness to the need to refer on when required. The Confidential Enquiry into Counselling for Genetic Disorders by non geneticists indicated that much practice fell short of what was required (Harris, R & H. 1999).
The increasing development of genetic susceptibility testing, particularly for some cancers, being drawn to the attention the public by media coverage is leading to increased expectations and anxiety. The public do have problems with the concept of having 'a gene' but not necessarily having a disease problem. Professionals need a breadth and depth of genetic knowledge ensure the correct diagnosis has been reached, to assess the appropriateness or limitations of testing and the time and skills to share that with their patients, for, properly used, genotype information has great potential for guiding management . One study reports that 32% of physicians who had ordered a test (for FAP) had misinterpreted the results and 20% of patients did not have a valid reason for having the test in the first place (Giardiello F, et al. 1997.)
This re-forces the need for much greater emphasis on education and training in genetics and counselling skills and available resource to address this.
Marteau et al. (1992) gives a good starting point for considering the utility of genetic information and tests - 'No matter how good a test is technically, screening of uninformed unsupported patients by unprepared staff is a recipe for at best confusion and at worst, great distress. And it is avoidable. We should be recommending how.
Within Clinical Genetic Services there is great care, based upon current knowledge, attitude, expertise and experience, in delivering genetic information within a framework which addresses the patient agenda and context. Counselling skills are used to explore the motivation of the patient enquiry and assess the psychological and social elements which may indicate a risk of a negative outcome. This comprehensive approach will need to be embraced by any health professional delivering elements of a genetic service. The need for facilitating informed choice with full consent applies whether we are talking about single gene disorders eg carrier testing population antenatal testing eg serum screening for Downs or susceptibility testing eg for some cancers.
It is clear that considerable resource will need to be spent on both education of other professionals and on creating service delivery frameworks which allow the time for proper exploration of available options if informed choices are to be enabled. Two examples of implementation of screening programmes without the necessary education and resource to ensure optimum for patients can be cited in the Downs screening programme and neonatal screening for CF. In both situations professionals have not shown a mastery of either the information or the skills to prevent negative outcomes for patients who have been left confused and anxious.
Giardiello, FM et al. 1997. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N. Engl.J.Med:336:823-827
Harris, R. & H. 1999. Clinical governance and genetic medicine. Specialist genetic centres and the Confidential Enquiry into Counselling for Genetic Disorders by non-geneticists. J. Med. Genetics;36:350-351.
Kinmonth,A.L. et al 1998. Implications for clinical services in Britain the United States. BMJ. 316: 767-770.
Marteau, T. et al. 1992. The psychological effects of false-positive results in prenatal screening for fetal abnormality. Prenatal Diagnosis. 12; 205-214.
OTHER AREAS OF CONCERN:
- The need for discretion and full information in the offering of genetic tests and in the interpretation of the results. They will only ever be a means to an end in the management of disease but they are sometimes seen as an end in themselves by patients and professionals. The need for counselling and support to facilitate the use of information from diagnostic and predictive genetic tests will remain.
- The need for use of appropriate outcome measures for Genetic Counselling in particular and Clinical Genetic Services generally.
See Bernhardt, B.et al. 2000. Goals, Benefits, and Outcomes of Genetic Counseling: Client and Genetic Counselor Assessment. Am. J. of Med.Genet;94:189-197. Henneman, L. et al. 2001. Community Genetics and its evaluation: a European Science Foundation Workshop. Community Genetics, 2001;4:56-59.
- The need to consider genetic testing as part of a continuum of health care management (pathway approach) so that the sequelae of testing and being found to be at high risk are available. This includes equity of access to preimplantation genetic diagnosis and appropriate screening and surveillance programmes for multi- system disorders such as VHL and Marfans . In the field of cancer susceptibility testing it includes the need for funding for screening and prophylatic surgery or other management strategies. What is to be the role of genetic registers for recall and review and will the funding be available to assure this approach everywhere.
- The need to ensure legislation in other areas particularly confidentiality of information does not introduce barriers to the ability confirm diagnoses and to assess family and individual risk.
- The need to define responsibilities and duties of professionals and patients in sharing genetic information with their family members. The acceptance of differing family dynamics which may enable and disable this pursuit.
- The need to exercise caution in the transferability of research data on the use, acceptability and outcomes of genetic counselling across populations, cultures, socio-economic groups, diagnostic groups and health care systems.