Jennifer Choi1, Taylor Kane2, Lauren Propst3, Sara Spencer4, Jamie Kostialik5, Aishwarya Arjunan5. 1. Northwestern University Graduate Program in Genetic Counseling, Chicago, IL, USA. jennifer.choi1@northwestern.edu. 2. Remember the Girls Inc., Mount Laurel, NJ, USA. 3. BillionToOne, Menlo Park, CA, USA. 4. Division of Clinical Genetics, Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. 5. Myriad Women's Health, South San Francisco, CA, USA.
Abstract
PURPOSE: To better understand the needs and experiences of the X-linked carrier community to improve future recognition, diagnosis, and treatment by bringing X-linked carrier voices together. METHODS: An anonymous survey link was distributed to members of Remember the Girls, a non-profit organization for female (XX) carriers of X-linked conditions, through its website, Facebook group, Instagram, and Twitter. The survey was developed to gather data on XX carriers of numerous X-linked conditions. RESULTS: One hundred and fifty individuals participated in the study. The majority (81/150) of individuals learned about their carrier status by giving birth to a son diagnosed with an X-linked condition. However, over 80% (120/145) believed that they should learn this information before the age of 18. Over 80% of participants (124/148) felt that they either have or may have symptoms attributable to their X-linked condition. Yet, only 10.1% (15/148) felt that they had sufficient access to knowledgeable healthcare providers and/or medical information. Additionally, 46.7% (70/150) of participants reported that healthcare providers did not discuss reproductive options with them. Improving carrier access to medical information, research studies, new treatments, and reproductive methods was found to be the top priority. CONCLUSION: Limited information exists on X-linked carriers' risk for symptoms and there is a lack of available treatments. This study demonstrates the need for more knowledgeable healthcare providers and medical information within the X-linked carrier community.
PURPOSE: To better understand the needs and experiences of the X-linked carrier community to improve future recognition, diagnosis, and treatment by bringing X-linked carrier voices together. METHODS: An anonymous survey link was distributed to members of Remember the Girls, a non-profit organization for female (XX) carriers of X-linked conditions, through its website, Facebook group, Instagram, and Twitter. The survey was developed to gather data on XX carriers of numerous X-linked conditions. RESULTS: One hundred and fifty individuals participated in the study. The majority (81/150) of individuals learned about their carrier status by giving birth to a son diagnosed with an X-linked condition. However, over 80% (120/145) believed that they should learn this information before the age of 18. Over 80% of participants (124/148) felt that they either have or may have symptoms attributable to their X-linked condition. Yet, only 10.1% (15/148) felt that they had sufficient access to knowledgeable healthcare providers and/or medical information. Additionally, 46.7% (70/150) of participants reported that healthcare providers did not discuss reproductive options with them. Improving carrier access to medical information, research studies, new treatments, and reproductive methods was found to be the top priority. CONCLUSION: Limited information exists on X-linked carriers' risk for symptoms and there is a lack of available treatments. This study demonstrates the need for more knowledgeable healthcare providers and medical information within the X-linked carrier community.
Authors: Ekaterina Shvetsova; Alina Sofronova; Ramin Monajemi; Kristina Gagalova; Harmen H M Draisma; Stefan J White; Gijs W E Santen; Susana M Chuva de Sousa Lopes; Bastiaan T Heijmans; Joyce van Meurs; Rick Jansen; Lude Franke; Szymon M Kiełbasa; Johan T den Dunnen; Peter A C 't Hoen Journal: Eur J Hum Genet Date: 2018-12-14 Impact factor: 4.246
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Authors: Kelly Reumkens; A J G van Oudheusden; J J G Gietel-Habets; M H E Tummers; C E M de Die-Smulders; L A D M van Osch Journal: J Genet Couns Date: 2018-01-25 Impact factor: 2.537