EXPANDING THE ROLE OF THE GENETIC COUNSELOR

The basic components of genetic counseling are informational and educa tional. The patient's cognitive and emotional presentation and the nee ds and concerns of the patient are seldom addressed, Females who carry the FMR1 pre and full gene mutation may present with learning, cognit ive, and/or emotional difficulties and family members of those diagnos ed with fragile X syndrome have ongoing needs and concerns. As a resul t, genetic counseling for fragile X syndrome offers a unique opportuni ty within which to expand the role of the genetic counselor, Q-methodo logy, by using the q-sort, is centered on the family to reproduce the needs and concerns that are consistent with the patient's own experien ce, Used for sociological research, the q-methodologg with specially c onstructed q-sort items is easily adapted to the genetic counseling se tting ((C) 1995 Flynn & Gaue) and can be used for directly assessing t he patient's needs and concerns. For our pilot study, 16 items were ph ysically sorted and ranked interdependently by the patient (subject), Thirty-seven patients (29 females and 8 males) participated in our pil ot 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 a nd concerns. Results have shown that specific items are missing from t he lives of subjects. From the information obtained from the q-sort, t he genetic counselor can identify needs and concerns of the patient an d combine this information with the clinical presentation to work with the patient in a more effective manner (C) 1996 Wiley-Liss, Inc.