Genetic counselling—does the terminology matter?BMJ 1997; 315 doi: https://doi.org/10.1136/bmj.315.7117.1241a (Published 08 November 1997) Cite this as: BMJ 1997;315:1241
Counselling for bereavement, marriage guidance, post-traumatic stress, and psychosexual problems is all important to patients with particular needs. And stressed doctors are also making increasing use of counselling services. But for those wishing to reap the benefits of new genetic knowledge the term counselling may be sending the wrong message. Consultation should be used to describe the complete process that follows the recognition that a clinical genetic problem may exist.
The genetic consultation includes making an accurate diagnosis and risk computation, and requires elements of a standard medical consultation, including taking a family history, examining the patient, and interpreting genetic laboratory results. Genetic counselling, a component of the genetic consultation process, involves imparting accurate, sensitive, and complex information to the patient and family in a non-directive and empathic way, but after the diagnosis has been confirmed and risks estimated.
Soon all medical disciplines will need enhanced genetic awareness in their consultations as the human genome programme identifies an increasing number of genetic risk factors, including those for common diseases. Treatments linked to mutation analysis will split diseases presently lumped together—for example, hypertension, currently treated with a range of blunderbuss pharmaceuticals—and will drive forward new and more precise classifications and treatments for many generic diseases. Much research in cancer genetics is being targeted at this area. The major interest and investment of pharmaceutical companies suggest that they at least believe these breakthroughs are imminent.
The impact on general medical care will be substantial. Patients will come to expect prescribing to relate to their genetic profile and for it to be subsumed into best practice. The genetic consultation will be seen as an integral part of the medical interaction, an alarming prospect perhaps for the currently unprepared hospital specialist and general practitioner. The relative luxury of the extended genetic counselling session as practised in genetic centres must mutate into a new genetic consultation learnt by students in the revitalised curriculum in medical schools and capable of wide application.
The challenge for clinical geneticists will be to combine education of the health professionals to include the principles of patient autonomy, informed choice, and confidentiality. Chip technology will allow multiple mutation analysis on the surgery desk, but preparing the medical workforce for the new genetics requires equal investment.
Much of this depends on preserving the strength of general practice, which lies in its system of registration and lifetime records. But retrospective analyses of these records show ad hoc record keeping and information gaps with little evidence of family history data. There will need to be a commitment to information technology to process individual genetic data, to link genetic risk factors within families, and to access genetic helplines and current referral protocols. Consultation rates in general practice varying between four and seven a year give many opportunities to reinforce this genetic information.
Genetic registers, traditionally the province of departments of medical genetics, already exist in embryonic form in primary care. A personal survey of a group of Meditel users—the computer system used by almost one third of GPs—showed that 90% recorded and could report on patients with Mendelian conditions—cystic fibrosis, Huntington's, thalassaemia—as well as a range of common diseases with genetic predispositions—familial cancers, insulin dependent and non-insulin dependent diabetes mellitus, and Alzheimer's disease. The power of this information must be harnessed to increase patients' awareness of their genetic inheritance so that the genetic consultation becomes the gold standard of care in the next millennium. Without this there will be increasing litigation for genetic misinformation.
Genetics will be too all pervasive in medical care for it to be an optional extra for general practice and other specialties, and too ethically charged to attract item of service payments. It should be possible to retain the excellent model of genetic counselling while broadening its focus of activity to include it within a new terminology—the genetic consultation—for the benefit of patients and doctors.
Log in using your username and password
Log in through your institution
Register for a free trial to thebmj.com to receive unlimited access to all content on thebmj.com for 14 days.
Sign up for a free trial