The challenge of recruiting people with the 22q11.2 Deletion Syndrome to participate in research during the COVID-19 pandemic in Brazil

RESUMO

INTRODUÇÃO: Aside from rarity, transport, costs, and travel time are recognized barriers to rare disease patient recruitment for in-person research in Medical Genetics. The COVID-19 pandemic rushed the shift from face-to-face to the adoption of remote participation in research. The virtual approach would remove displacement barriers and, consequently, has the potential to become a fantastic recruitment tool as it allows the inclusion of people affected by a rare disease in different regions of the country. In order to continue my doctorate project “Access to health and quality of life in the 22q11.2 deletion syndrome” during the pandemic, different strategies were adopted to recruit families affected by 22q11.2 deletion syndrome (22q11.2 DS) through the Internet. The main objective of this project is to evaluate the health care access for people with 22q11.2 DS and the quality of life of their caregivers through structured questionnaires (a health survey, made available online by email via Google forms, and the World Health Organization Quality of Life questionnaire -WHOQO-bref, made available by email in .docx format). The Informed Consent Form is sent by email through the Contraktor platform for digital signature. Inclusion criteria for parents or guardians in both questionnaires are molecular confirmation of 22q11.2 DS of their relatives and internet access. Among the strategies adopted to reach 22q11.2 DS families are the creation of social media to disseminate accessible scientific information; the use of a group of parents and/or caregivers on Whatsapp; dissemination in sites of genetics content, meetings, and conferences. Therefore, families may become aware of the research through different sources. However, little is known about the efficiency of sources like this for research subject recruitment.

OBJETIVOS: Evaluate the effectiveness of different online sources for disseminating the research and of the Internet as a tool for subject recruitment.

MÉTODOS: The sources for research dissemination were classified as 1- The Instagram research page @cienciaesaude.sd22q11.2; 2- Facebook research page @cienciaesaude.sd22q11.2; 3- The WhatsApp group of parents and/or guardians; 4- Preexisting pages on Facebook or Instagram; 5- Pressroom of sites (Faculty of Medical Sciences of Unicamp or Brazilian Society of Medical Genetics); 6- Meetings and conferences; 7- Family members of people with 22q11.2 DS. The effectiveness of the Internet for subject recruitment was measured only for the @cienciaesaude.sd22q11.2 social media on Instagram and Facebook and for the group of parents and/or guardians on WhatsApp. The measurement was made through the analysis of the scope and the number of patients recruited from each source, from August 2020 until March 2022.

RESULTADOS: We received 49 answers for the health survey, (48 from women vs. 1from man; 47 were from mothers, 1 from a grandmother, and 1 from a father), 43 answers for the WHOQOL-bref (42 from women vs. 1 from man; 41 were from mothers, 1 from a grandmother and 1 from a father) and 34 complete answers for both questionnaires together with a signed consent form, (33 from women vs. 1from man; 32 were from mothers, 1 from a grandmother and 1 from a father). From the 34 participants that submitted complete answers, 10 (29%) were recruited from the Instagram research page @cienciaesaude.sd22q11.2, 22 (65%) from the WhatsApp group of parents and/or guardians, 1 (0,003%) from the Facebook research page @cienciaesaude.sd22q11.2 and 1 (0,003%) from family members of people with 22q11.2 DS. The effectiveness of the WhatsApp group of parents and/or guardians was 0,1 % (224 is the total number of WhatsApp group members), of the Instagram research page @cienciaesaude.sd22q11.2 was 0,02% (558 is the total number of followers), and of the Facebook research page @cienciaesaude.sd22q11.2 was 0,006% (162 is the total number of followers).

CONCLUSÃO: Overall, the use of digital technologies to recruit and retain participants appears to provide unsatisfactory results. The elimination of displacement barriers does not minimize the challenges associated with rare disease patient adhesion. From the sources of recruitment utilized in this research, the WhatsApp group of parents and/or guardians was the most effective one, especially if there is encouragement from family members of the group. Although a study was not carried out to identify barriers to the full completion of the research (Informed Consent Term and both questionnaires on different platforms) possible explanations could be: low understanding to access the different forms and tools, the time spent to fill all forms, and lack of interest in participation.

BIBLIOGRAFIA: 1. Hampton T. Rare disease research gets boost. J Am Med Assoc. 2006;295(24):2836–8. 2. Easterbrook PJ, Matthews DR. Fate of research studies. J R Soc Med. 1992;85(2):71–6. 3. Applequist J, Burroughs C, Ramirez A, Merkel PA, Rothenberg ME, Trapnell B, et al. A novel approach to conducting clinical trials in the community setting: Utilizing patient-driven platforms and social media to drive web-based patient recruitment. Vol. 20, BMC Medical Research Methodology. 2020.

PALAVRA-CHAVE: 2q11.2 Deletion Syndrome, access to health care, research subject recruitment, patient recruitment