Expanding the role of the genetic counselor

Abstract

The basic components of genetic counseling are informational and educational. The patient's cognitive and emotional presentation and the needs and concerns of the patient are seldom addressed. Females who carry the FMR1 pre and full gene mutation may present with learning, cognitive, and/or emotional difficulties and family members of those diagnosed with fragile X syndrome have ongoing needs and concerns. As a result, genetic counseling for fragile X syndrome offers a unique opportunity within which to expand the role of the genetic counselor. Q‐methodology, by using the q‐sort, is centered on the family to reproduce the needs and concerns that are consistent with the patient's own experience. Used for sociological research, the q‐methodology with specially constructed q‐sort items is easily adapted to the genetic counseling setting © 1995 Flynn & Gane and can be used for directly assessing the patient's needs and concerns. For our pilot study, 16 items were physically sorted and ranked interdependently by the patient (subject). Thirty‐seven patients (29 females and 8 males) participated in our pilot study. Preliminary results show that the age of the proband, length of time of the diagnosis, and parental sex at the time the q‐sort is administered impacts the ranking of items thus differentiating needs and concerns. Results have shown that specific items are missing from the lives of subjects. From the information obtained from the q‐sort, the genetic counselor can identify needs and concerns of the patient and combine this information with the clinical presentation to work with the patient in a more effective manner. © 1996 Wiley‐Liss, Inc.

Comparing two image research instruments: The Q-sort method versus the Likert attitude questionnaire

“…Particularly within medical and nursing research, the Q-sort method is often used to measure patients' or professionals' attitudes toward health-related issues, such as chronic pain (Risdon, Eccleston, Crombez, & McCracken, 2003), the adoption of information technology (Valenta & Wigger, 1997), and patients' needs and concerns (Staley-Gane, Flynn, Neitzel, Cronister, & Hagerman, 1996). The method has also become quite common as a research approach for public opinion (Webler, Tuler, & Krueger, 2001), communication (Carlson & Trichtinger, 2001), policy analysis (Durning, 1999), landscape planning and rural research (Swaffield & Fairweather, 1996;Previte, Pini, & HaslamMcKenzie, 2007), environmental issues (Barry & Proops, 1999), and education (Lecouteur & Delfabbro, 2001).…”

Treatment effects of stimulant medication in young boys with fragile X syndrome

“…ADHD is a pervasive feature in FXS, affecting the broad cognitive spectrum of boys with borderline to normal intelligence quotient (IQ) scores (Staley-Gane et al 1996). Studies indicate that the prevalence of ADHD in FXS is higher than rates of 7–33% for children with non-specific intellectual disability (Baumgardner et al 1995) and is independent of mental age (Sullivan et al 2006) and IQ (Baumgardner et al 1995).…”