Goals of genetic counseling

Abstract

The goals of genetic counseling have differed over the past three decades. Two schools of thought are prominent in reviewing past literature. One upholds the goal of preventing birth defects and genetic disorders while the other promotes a goal of improved psychological well-being in client adaptation to a genetic condition or risk. Both types of goals emphasize that clients should make their own reproductive decisions; however, the former relies on clients making decisions that will reduce the impact of genetic disorders. The differences in the types of goals may be due to the training and orientation of genetics health care providers, socio-cultural views, or priorities of health care settings. Regardless, there are ample reasons to dismiss the prevention of birth defects as a goal. This mini-review recommends use of genetic counseling sub-specialties as a framework for considering different client needs and thus different counseling goals and specific aims in the reproductive, pediatric/adult, and common disease settings. Given the extent of new genetic information, technologies, and the need to evaluate genetic counseling practice, genetics health care providers should work toward arriving at consensus on the goals of genetic counseling, and in doing so, the needs of clients should be considered.

Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

“…3,12 Of note, genetic counseling has been shown in a number of studies to promote psychological well-being through educational and emotional support, including improved psychosocial responses of patients who regularly attend this type of multidisciplinary clinic. 12,26 Participants in this study were recruited directly from two specialized clinics incorporating a multidisciplinary approach to care and this may represent a better adjusted and more informed cohort.…”

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

“…Entities outside the profession, such as state licensing boards, insurance companies, and other health-care providers, may use outcome studies to justify the hiring and reimbursement of GCs. 2 Although GCs can play a key role in educating patients on treatment, management, and/or screening options (e.g., cancer screening for a patient with a hereditary cancer syndrome and diet interventions for a child with a metabolic disease), unlike physicians, GCs do not provide physical interventions such as surgeries or prescribed diets, which have a direct impact on physical effects of disease. Prevention of genetic diseases or birth defects was a medical outcome associated with prenatal genetic counseling in the 1950s and 1960s.…”

“…However, such a goal is at odds with the views of many in the community of people with disabilities and their allies and is in conflict with the genetic counseling principle of nondirectiveness as it implies that patients should be directed to terminate affected pregnancies. 2 As GCs become more involved in the provision of care for patients with treatable genetic disorders and common chronic diseases for which lifestyle or other interventions may reduce disease risk, biomedical outcomes such as morbidity and mortality may become increasingly important measures of outcomes in genetic counseling.…”

“…Therefore, the usefulness of these outcomes in evaluating the effectiveness of the GC may be limited, and new outcome measures are needed. 2 Patient adherence is a crucial link between the process of providing health-care and health outcomes. 1 Medical management adherence is widely studied in medicine.…”

Breast cancer genetic counselling referrals: how comparable are the findings between the UK and the Netherlands?

“…surgeon, medical oncologist, radiation oncologists and radiologist. A primary goal of breast cancer genetic counselling is to carry out a risk assessment, educate the counselee about their risk, prevention and early detection with the aim of reducing morbidity and mortality (Biesecker et al 1993;Biesecker 2001). Since both UK and Dutch physicians cannot directly order a DNA test for BRCA testing, all BRCA testing is conducted through the genetics units.…”