Overcoming Barriers to Genetic Testing Key to Identifying More Cases of Fabry Disease


These national and regional barriers, which range from cost of screening to patient education, have hindered the widespread use of screening, say the researchers.

Genetic testing is becoming increasingly utilized in a variety of disease states, including Fabry disease. However, despite greater uptake, barriers to widespread implementation remain, leading researchers to explore the available literature to identify which barriers persist when it comes to family genetic testing for the rare disease.

These national and regional barriers, which range from cost of screening to patient education, have hindered optimal use of screening, say the researchers, who analyzed data from 89 publications focused on family genetic testing for Fabry disease, an X-linked lysosomal storage disorder caused by pathogenic variants in GLA.

The researchers highlighted the importance of finding and implementing ways to overcome these barriers, as family genetic testing of patients diagnosed with the rare disease can significantly increase the number of identified cases.

“This review of the published scientific literature on family genetic testing for Fabry disease supports the value of thorough pedigree drawing and analysis for all newly diagnosed patients and genetic testing of all potentially affected individuals in their family tree,” wrote the researchers.

In fact, the literature review revealed that having a detailed pedigree analysis of a newly diagnosed patient can identify nearly 5 additional affected relatives. The identification of these other patients can also help facilitate early treatment and subsequently better outcomes, say the researchers.

“Initiatives that may help to improve the use of family genetic testing in Fabry disease could include programs focused on educating physicians via presentations at international congresses or as part of online seminars/webinars with live questions and answers (this may be especially important during the COVID-19 pandemic; Laney et al., 2020), design of simpler software tools to help draw digital family trees, and creation of patient educational booklets or online tools to (a) assist communication with patients and (b) facilitate communication between patients and their family members, helping them to explain the need for family screening and overcome the stigma of a rare disease diagnosis,” suggest the researchers.

The barriers included in the review include:

  • Cost: This includes the genetic test and counseling, transport of dried blood spot samples, and patient travel costs
  • Cultural/societal issues: These include complex family structures, fragmented families, and fear of stigmatization
  • Logistical issues: These include lack of trained medical geneticists, lack of genetic laboratories in certain areas, and the geographical spread of populations
  • Communication: This includes suboptimal awareness of Fabry genetics and screening benefits among physicians and difficulty tracing relatives


Germain D, Moiseev S, Suárez-Obando F, et al. The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease. Mol Genet Genomic Med. Published online April 9, 2021. doi:10.1002/mgg3.1666

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