Expanding the role of the genetic counselor.
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 results, 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 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.
Staley-Gane
L
L
Children's Research Institute, Children's Hospital, Denver 80218, USA.
Flynn
L
L
Neitzel
K
K
Cronister
A
A
Hagerman
R J
RJ
D000328:Adult; D002648:Child; D005190:Family; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D009679:Nuclear Family; D010290:Parents / Q000193:education*; D011779:Q-Sort; D016601:RNA-Binding Proteins
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human