Understanding the present and preparing for the future: Exploring the needs of diagnostic and elective genomic medicine patients

Abstract

Advances in genomic knowledge and technology have increased the use of comprehensive clinical sequencing tests. Genome sequencing has established utility for diagnosing patients with rare, undiagnosed diseases as well as interest in an elective context, without a clinical indication for testing. The Smith Family Clinic for Genomic Medicine, LLC in Huntsville, AL is a private practice genomic medicine clinic caring for both diagnostic (79%) and elective (21%) patients. Diagnostic and elective patients are seen on a clinical basis and receive standard care. Genome sequencing is provided on a self‐pay basis, with assistance available for diagnostic patients who have financial need. Here, we describe demographics and motivations of the distinct patient populations and our experiences engaging patients in online education. Diagnostic patients were motivated by the possibility of receiving an explanation for symptoms (96%) while elective patients were motivated by the chance to learn about future disease risk (57%). Elective patients were less likely to engage with online education, with only 28% reading all assigned topics compared to 54% of diagnostic patients. Understanding the needs, interests, and barriers unique to diagnostic and elective patients is critical to inform individualized and scalable best practices in patient education and engagement.

Out‐of‐pocket and private pay in clinical genetic testing: A scoping review

“…Following resolution of any discrepancies between reviewers, 83 publications were included in the final review (ordered alphabetically by primary author in Table 1). 8–90 A flow diagram tracking the number of studies at each stage of the selection process is presented in Figure 1.…”

“…Of the eighty‐three publications included in the review (Table 1), 8–90 seventy‐five (90.4%) were published since 2010 inclusive, and 48 (57.8%) since 2016 inclusive (Figure 2). The majority of studies were carried out in the United States ( n = 66; 79.5%), followed by the United Kingdom ( n = 5; 6.0%), Canada ( n = 3; 3.6%), and Australia ( n = 2; 2.4%) (Figure S1).…”

“…Six articles focused specifically on WGS ( n = 2) or ES ( n = 4) in the United States 58–63 . With respect to WGS, a 2018 study from Alabama reported that patients with rare, undiagnosed genetic diseases often declined clinical WGS due to cost, and chose other types of testing or no testing at all 58 .…”

“…65 Lastly, a repeated observation throughout the review was that a significant proportion of US patients were unwilling to let insurance companies or employers gain access to the results of genetic testing, for fear of potential discrimination. 9,10,19,58,66,67 Hence, some at-risk persons opted to meet the expenses from their personal funds, whilst others were unable or unwilling to meet the costs and consequently declined testing. 68 We previously assessed the attitudes of genetic healthcare professionals practicing in Canada towards discussing private pay options for genetic testing with patients.…”

A study of elective genome sequencing and pharmacogenetic testing in an unselected population

“…Some participants were likely motivated to undertake elective testing due to a suspected genetic disorder in the family. Considering these factors, it is unsurprising that studies examining patient perceptions and economic aspects of elective genomic testing yield a range of results and recommendations (Baptista et al, 2016;East et al, 2019;Fiala et al, 2019;Flemin et al, 2019;Lewis et al, 2016;Lupo et al, 2016;Price et al, 2017;Roberts et al, 2018;Sanderson et al, 2016;Zoltick et al, 2019). More research is needed to explore the clinical and personal impact of elective GS, across different clinical contexts and patient populations.…”