Assessing the Implications of Positive Genomic Screening Results

Abstract

Aim: Before population screening of ‘healthy’ individuals is widely adopted, it is important to consider the harms and benefits of receiving positive results and how harms and benefits may differ by age. Subjects & methods: Participants in a preventive genomic screening study were screened for 17 genes associated with 11 conditions. We interviewed 11 participants who received positive results. Results: Interviewees expressed little concern about their positive results in light of their older age, the risk condition for which they tested positive, or other pressing health concerns. Conclusion: Researchers and clinicians should recognize that returning positive results may not have the impact they presume given the diversity of the conditions screened and those who choose to undergo screening.

Sources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children

“…Such studies are almost impossibly expensive to do for rare variants because the rarer the variant, the larger the study would need to be to enroll enough infants to generate meaningful follow-up data. 13 There is a cautionary tale about false-positive genome sequencing results in the story of newborn screening. New York State initiated newborn screening for Krabbe disease in 2005.…”

“…Of note, the National Institutes of Health-sponsored Environmental Influences on Child Health Outcomes is collecting data on a construct termed positive child health, which is based on several short questionnaires and accounts for biological, functional, behavioral, and/or experiential assets, 16 thereby aligning with the Institute of Medicine's definition of health as children's ability and potential to (1) develop and realize their potential; (2) satisfy their needs; and (3) develop the capacities that allow them to interact successfully with their biological, physical, and social environments." 13 The promise of this field of investigation is a better understanding of the life course of those born prematurely from their own perspectives, providing guidance and hope, for clinicians, policymakers, and families. n…”

In-vivo design feedback and perceived utility of a genetically-informed smoking risk tool among current smokers in the community

“…There is noted public interest in genetic testing for psychiatric disorders, including disorders of addiction. That interest varies based on context (e.g., having symptoms of a disorder, having a family member with a diagnosis, age, entertainment value, skepticism) and perceived potential impact and value of the genetic results [ 15 , 16 – 18 ]. To meet this demand, numerous studies have assessed stakeholders’ perceptions about the hypothetical use of genetic information in healthcare [ 19 – 26 , 27 ] as well as the consequences of returning actual genetic information to patients and consumers [ 10 , 12 – 17 , 27 – 31 ].…”

“…That interest varies based on context (e.g., having symptoms of a disorder, having a family member with a diagnosis, age, entertainment value, skepticism) and perceived potential impact and value of the genetic results [15,[16][17][18]. To meet this demand, numerous studies have assessed stakeholders' perceptions about the hypothetical use of genetic information in healthcare [19][20][21][22][23][24][25][26]27] as well as the consequences of returning actual genetic information to patients and consumers [10,[12][13][14][15][16][17][27][28][29][30][31]. This work spans multiple settings, designs, types of genetic information (e.g., direct-to-consumer testing, medical genomic sequencing panel results), and ways of presenting genetic information (e.g., active versus passive).…”

“…There are also concerns over inadequate opportunities for education and training about genetics as a whole [22,25,26,34] as well as fears of insurance discrimination [19,15]. Implementation facilitators include the relative lack of evidence for adverse patient and consumer reactions to receiving genetic information [7,16,30]. Gains in knowledge, self-efficacy, and overall engagement with their results have also been noted among patients and consumers [28][29][30] in addition to positive behavior changes such as disclosing results with another person or lifestyle changes [12,17,31,38].…”