Clinical genetic testing and counselling

The regulations on clinical genetic testing and counselling in the Netherlands apply to "postnatal and prenatal chromosome, biochemical and DNA testing, the clinical removal of foetal material, advanced ultrasound scanning for foetal abnormalities and complex genetic counselling". The regulations are designed to assure the quality and continuity of the procedures in question, which are regarded as a form of medical care.

Experimental research has increased the potential applications of clinical genetic testing considerably. As indicated in the Health Council's earlier advisory report "DNA Diagnostics", both the Human Genome Project and research into specific hereditary conditions have yielded a great deal of clinically relevant information. It should also be pointed out that diagnostic DNA tests, including tests for germline mutations, are not carried out exclusively as a basis for genetic counselling. Furthermore, the results of diagnostic biochemical tests are frequently not of a clinical genetic nature.

The regulations on clinical genetic testing and counselling have been successful in promoting high quality standards. In addition, the relevant professional associations have set up committees to monitor quality and raise quality levels. In the advisory report referred to above, the Health Council expressed its approval of the quality standards in clinical genetic testing. A report into clinical genetic testing commissioned by the Health Insurance Funds Council also drew a positive conclusion regarding the quality of test activities.

Between 1990 and 1995, the number of requests for genetic counselling rose by 11 per cent a year. The annual rate of increase is soon expected to reach 15 per cent, as a result of the rapid rise in enquiries regarding hereditary forms of cancer. The associated increase in the number of DNA tests is likely to be greater: perhaps 20 per cent. However, demand for chromosomal tests and advanced ultrasound scans is expected to rise to a lesser extent: 6 per cent a year is probable. No quantitative increase is anticipated in biochemical diagnostic testing for clinical genetic purposes. The present number of clinical genetics centres is considered sufficient to cope with the forecast levels of demand.

The committee does not believe that it is necessary to revise the definition of the forms of care covered by the regulations on clinical genetic testing. It is also concluded that concentration of clinical genetic testing in university centres has contributed to continuity and quality improvement. This concentration should be maintained in view of the nature of genetic counselling.

In the light of recent developments in the field of clinical genetics, the committee makes the following recommendations:

* Genetic counselling and the associated test activities should continue to be concentrated in the nominated centres.
- The professional groups involved in clinical genetics should have responsibility for drafting and updating quality requirements; in this context, the government's role should be supervisory.
- Forecasts regarding the level of provision required in this field should take account of the rapid increase in demand for counselling regarding hereditary forms of cancer.