Losing Sight
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PROFESSIONAL ISSUES
Losing Sight Angela M. Trepanier
Received: 11 May 2011 / Accepted: 16 November 2011 / Published online: 3 December 2011 # National Society of Genetic Counselors, Inc. 2011
Keywords Genetic counseling . Decision making . Nondirectiveness . Access to services
Some day, when you least expect it, a case may come along that makes you evaluate how effectively you provide genetic counseling services. For me the case below, which happened over 10 years ago, is one such case. I was providing reproductive genetic counseling in a setting that required me to travel to different obstetrics offices- every day was a different office, a different patient population, a different set of personalities, and a different set of expectations. The office in which this case took place was particularly challenging; I was constantly made aware that if I was not able to meet the physicians’ expectations, their business would be sent to a competing laboratory. I had a full case load (six cases) that day when a seventh was added to my schedule. A couple had been referred for a detailed ultrasound without genetic counseling. The referral indicated their only child had died at 1 year of age of a congenital heart defect. The maternal fetal medicine specialist, in obtaining the medical history of the affected child, realized she actually had a metabolic condition that resulted in her heart disease. At that point, the couple was referred to me. They had driven 2 hours to the clinic, and the pregnancy was at 20 weeks gestation. The physician told me that if the couple wanted prenatal diagnosis via amniocentesis it had to be done that day.
A. M. Trepanier (*) Center for Molecular Medicine and Genetics, Wayne State University, 2375 Scott Hall, 540 E. Canfield Street, Detroit, MI 48201, USA e-mail: [email protected]
I quickly pulled out the relevant reference books to familiarize myself with the condition and to determine if and how prenatal diagnosis could be achieved. I obtained information about which labs offered testing. Then I called the one laboratory that would do prenatal diagnosis to determine the logistics of testing. Within about 15 minutes I managed to pull together the information I needed to counsel the couple. I obtained medical record confirmation of their daughter’s diagnosis and then counseled them about the availability of prenatal diagnosis via biochemical testing and what it would involve. I acknowledged their loss, addressed their anxiety, and provided informed consent for prenatal diagnosis. There was a small complication- since the testing would be performed in an out-of-state laboratory which did not accept Medicaid from our state, the couple would have to pay out-of-pocket (about $200) for the biochemical analysis portion of the testing. They reported that they did not have their check book but would send a check to our office so we could send the payment to the laboratory with the cultured amniocytes. Within an hour, the couple was back in the ultrasound suite having their amniocentesis. I felt pr
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