SMA Concentric Circles Café

SMA (Spinal Muscular Atrophy) is a disease with a high genetic risk. In Taiwan, with an estimated 63,000 screening cases annually, SMA screening has been promoted since 2005 and is still a self-funded program. The current screening process usually gives priority to women who are pregnant or preparing for pregnancy. If the person is a carrier, then the spouse's carrier test will follow. Genetic counseling is particularly important due to the many complex ethical issues involved.

On April 10, TFRD collaborated with the Taiwan Association of Genetic Counseling on holding the SMA Genetic Counseling Seminar on Genetic Testing and Prenatal Genetics, inviting genetic counselors to discuss in a World Café format. 

The Concentric Circles Café means that in addition to the knowledge of genetics, the counselors should also proceed with empathy, love and patience during counseling.

A total of 13 genetic counselors and 4 table leaders participated in this seminar. The topics discussed are about the genetic counseling that families may need after an SMA carrier is screened. As far as possible, we outlined the key elements of a complete genetic counseling process, including (1) counseling when a woman is a carrier and her husband has a negative screening result (not carrier), or in the case of pregnancy or non-pregnancy when both partners are carriers; (2) how to assist the couples with dual carriers who are preparing for prenatal genetic testing, and discuss the handling of the test results and the focal points of the counseling; (3) focus of genetic counseling for negative prenatal genetic test results; and (4) aspects of genetic counseling for positive prenatal genetic test results.

Through this event, we hope to highlight the indispensable role of genetic counseling in all stages of prenatal genetic testing after carrier screening. After the meeting, we also compiled conclusions for front-line staff as reference.

Translator: David Lee (Becker Muscular Dystrophy)