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. 2021 Oct;38(10):2757-2767.
doi: 10.1007/s10815-021-02270-6. Epub 2021 Jul 31.

Not just carriers: experiences of X-linked female heterozygotes

Jennifer Choi  1 , Taylor Kane  2 , Lauren Propst  3 , Sara Spencer  4 , Jamie Kostialik  5 , Aishwarya Arjunan  5
Affiliations

Not just carriers: experiences of X-linked female heterozygotes

Jennifer Choi et al. J Assist Reprod Genet. 2021 Oct.

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.

Keywords: Care management; Reproductive genetics; Symptomatic female (XX) carrier; X-linked condition.

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Conflict of interest statement

Aishwarya Arjunan and Jamie Kostialik are former employees of Myriad Women’s Health. Lauren Propst is an employee of BillionToOne. Taylor Kane is the founder of Remember the Girls. Authors Jennifer Choi and Sara Spencer declare no competing interests.

Figures

Fig. 1
Fig. 1
Patient recruitment process. *The survey invitation asked participants to share the survey with other X-linked carriers and their network
Fig. 2
Fig. 2
Experiences with carrier identification. a) The age at which carriers learned that they were a carrier of an X-linked condition in comparison to the age at which they believe individuals should be told they are carriers. b) How carriers initially learned about their carrier status
Fig. 3
Fig. 3
Reproductive options. a) Participants reported that these options were discussed by their healthcare provider. b) Participants preferred these options if cost or insurance were not a barrier. *Participants could select all that apply
Fig. 4
Fig. 4
Priority of needs among X-linked carriers. Participants were asked to select how important certain statements were related to their X-linked disease. *Participants were provided the following options: Very Important, Important, Moderately Important, Slightly Important, and Not Important
Fig. 5
Fig. 5
How information about X-linked carrier status would have been used if it was known earlier in comparison to the impact of learning information about carrier status
See this image and copyright information in PMC

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