Outcomes and process in genetic counselling

Abstract

Although it may be simple to evaluate some elements of clinical genetics, it is difficult to evaluate genetic counselling. We review previous studies of the outcomes of genetic counselling; although the methods used may be valid in research studies, there are practical and ethical difficulties in applying them to the measurement of clinical effectiveness in standard practice. No simple measures of outcomes would be suitable. Research evidence will be helpful in deciding what services it is appropriate to offer, and the quality of a service can then be assured by assessing the quality of the clinical process in three ways: 1) adherence to agreed protocols and standards of care; 2) peer review and audit of clinical activity; and 3) ongoing review of the satisfaction of clients and referring physicians with the service. The assessment of client satisfaction will need to be a sophisticated form of retrospective satisfaction with the service provided, and such a scheme has yet to be fully developed.

Medical management adherence as an outcome of genetic counseling in a pediatric setting

“…3 However, assessing client knowledge implies a judgment about what information should be important to the client (and therefore remembered), which may not always match the client's actual values. 4 Risk perception, another variable related to education, is also examined in many studies. [5][6][7] However, it is well known that risk perception is influenced by factors outside the control of a GC, such as the client's personality, and can even change with time as the client's life situation changes.…”

“…[5][6][7] However, it is well known that risk perception is influenced by factors outside the control of a GC, such as the client's personality, and can even change with time as the client's life situation changes. 4 Psychosocial support is another goal of genetic counseling. 3 Studies have evaluated client satisfaction with counseling and "psychological adjustment" by measuring well-being and perceived personal control.…”

Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling

“…On the other hand, a retrospective design may have some advantages, in that satisfaction measures have been suggested to be more accurate if assessed retrospectively rather than shortly after counselling. 19 Secondly, we have evaluated only subjective indicators, such as the perceived impact of counselling, without investigating objective outcomes through validated tools such as knowledge questionnaires and psychometric scales.…”

Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations

“…However, carriers' adherence is supposed to be a personal decision based on individual risk perception. Self-determination is a central concept in current human genetics, 8 as underlined by laws recently introduced in many countries. 9 In Switzerland, the management of women with genetic breast/ovarian cancer risk is not limited to specialized institutional units: once BRCA1/BRCA2 mutations have been identified and posttesting genetic counseling has been performed, carriers are usually referred to their gynecologists and primarycare physicians in the private health-care sector to implement long-term surveillance and prevention measures.…”