To read the complete article by Peery et al, please click here.

For women who are diagnosed with Fragile X-associated primary ovarian insufficiency, or FXPOI, the journey from pre-diagnosis to post-diagnosis care can be challenging due to gaps in the knowledge of healthcare providers. Approximately 20% of women who carry  the FMR1 premutation experience FXPOI, making FXPOI the most common Fragile X Premutation Associated Condition. However, it is the most underdiagnosed. The authors of this study seek to increase awareness of FXPOI and efficiency and speed of the diagnosis journey by proposing to introduce an educational tool to equip professionals with advanced knowledge on the condition. 

This study is the result of multiple women positively diagnosed with FXPOI expressing their dissatisfaction with the way healthcare institutions handled their diagnosis and care and disappointment with the lack of empathy among professionals. Very often, their symptoms of FXPOI were swiftly dismissed, and some even had limited access to hormone testing.  These women’s  experiences with fragmented FXPOI knowledge in professionals resulted in delayed diagnosis and care, and eventually confusion as to what type of care would be best for them. These experiences drove researchers to test a specially curated educational tool on FXPOI, which was disseminated among healthcare providers at pre-diagnosis post-diagnosis stages. The recipients of this tool were geneticists,  providers of reproductive endocrinology and infertility care, obstetricians, and gynaecologists. 

The study at hand included 166 participants who completed the pre-intervention survey and 95 who completed the post-intervention survey. Many of the participants were female physicians. They were most knowledgeable about FXPOI symptoms and long-term care after diagnosis, and the least knowledgeable about how many CGG repeats place an individual assigned female at birth at the highest risk for FXPOI and patient indicators that warrant for FMRI testing. 

Researchers found that the educational tool greatly increased participants’ knowledge about FXPOI especially in the realm of genetics. The study revealed a gap in genetics education in nursing school may contribute to limited knowledge on FXPOI, highlighting the need for broader education on genetics among other specialities. The tool helped participants improve their knowledge on how many CGG repeats place a woman at the highest risk for FXPOI, and that FMR1 testing should be done after certain hormone levels and clinical signs and symptoms are observed. 

Researchers found that sound understanding of the personal health risks associated with a premutation can lead to improved outcomes for women. Women with FXPOI are at risk of osteoporosis, cardiovascular disease, and infertility, most of which have recommended preventative and therapeutic measures if a patient with FXPOI is diagnosed promptly. The authors set out that women with a premutation are not only at risk for FXPOI, but also many other health complications, including but not limited to mental health issues, tremor, and ataxia. It is important that difficulties in the diagnosis and care journey of women living with the most common FX Premutation Associated Condition receive more attention in future studies.