Explaining Mendelian Inheritance in Genetic Consultations:An IPR Study of Counselor and Counselee Experiences

摘要

The explanation of Mendelian inheritance is akey component of most genetic counselling consultations,yet no evidence base exists for this area of practice. Thisqualitative study used Interpersonal Process Recall (IPR) toexplore how information about X-linked inheritance isprovided and received in genetic counseling. Twelveconsultations involving two senior genetic counselors and21 counselees were videotaped. Section(s) of videotapefeaturing the explanation were subsequently played backseparately to both counselees and counselors and theirresponses and reflections recorded. All interviews werefully transcribed and analysed using the constant compar-ison method. A personalised diagram, drawn "live" by thecounselor during the consultation was recalled by counse-lees as being central to their understanding of the "bottomline". This helped bridge the gap between scientificinformation and their family experience and did not appearto require a baseline understanding of genetic concepts suchas genes or chromosomes. Counselors reflected on thediagram's positive impact on the way they sequenced,paced and tailored the explanation. A positive counselor-counselee relationship was vital even during this educativeexchange: for counselees to feel at ease discussing complex genetic information and to help gauge counselee under-standing.