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• W4385649870 abstract "Over the last decade, there have been incredible developments in pediatric genomic medicine, transforming the way that we can predict, diagnose, and treat disease. First, with decreasing costs and rising diagnostic rates, exome sequencing and—increasingly—genome sequencing have evolved from research-based tests to clinical tests, revolutionizing rare disease diagnostics. Second, a growing network of biobanks around the word, including the UK Biobank, H3Africa, and All of Us, are currently collecting data from thousands of genotyped and phenotyped individuals. These biobanks allow for genome-wide association studies that can be used to develop polygenetic risk scores used to predict the risk of common diseases caused by the combined effects of variants in many genes.1Uffelmann E Huang QQ Munung NS et al.Genome-wide association studies.Nat Rev Methods Primers. 2021; 1: 59Crossref Scopus (212) Google Scholar Third, genomic population-based screening programs for newborns and adults are now being piloted, and these programs have the potential to expand the detection, prevention, and treatment of a range of serious illnesses.2Foss KS O'Daniel JM Berg JS et al.The rise of population genomic screening: characteristics of current programs and the need for evidence regarding optimal implementation.J Pers Med. 2022; : 12PubMed Google Scholar,3Stark Z Scott RH. Genomic newborn screening for rare diseases.Nat Rev Genet. 2023 Jun 29; https://doi.org/10.1038/s41576-023-00621-wCrossref PubMed Scopus (2) Google Scholar Fourth, pharmacogenomic testing is increasingly being used to predict individuals’ responses to medications based on their genetic makeup. In oncology, tumor sequencing guides the selection of targeted cancer treatments. Advances in all these areas are rapidly developing, making it an exciting time for both research and clinical applications of genomic medicine. As genomic medicine is increasingly integrated into routine clinical care, research questions have shifted from those of validity and feasibility to those of value, access, and clinical implementation, topics which are the focus of this Specialty Update. These are important research areas in the current era of genomic medicine because they inform whether the benefits of genomic medicine interventions are worth their costs, what individual- and system-level factors are associated with barriers to assess, and how interventions can be implemented to meet their intended goals. Current and future research in these 3 areas will build the evidence base to inform clinical guidelines and policies that can expand access to genomic medicine in an equitable and cost-effective manner. Articles in this issue address three aspects of value: valuation of non-health outcomes, return of secondary findings, and measurement of clinical effectiveness.4Richards JL Knight SJ. Parents’ perspectives on secondary genetic ancestry findings in pediatric genomic medicine.Clin Ther. 2023; 45: 719-737Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar, 5Hayeems RZ Luca S Chad L et al.Assessing the performance of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): further evidence of inter-rater reliability.Clin Ther. 2023; 45: 738-744Abstract Full Text Full Text PDF Google Scholar, 6Sheen D Peasgood T Goranitis I. Eliciting societal preferences for non-health outcomes: a person trade-off study in the context of genomics.Clin Ther. 2023; 45: 710-718Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar, 7Ungar WJ Hayeems RZ Marshall CR et al.Protocol for a prospective observational cost-effectiveness analysis of returning secondary findings of genome sequencing for unexplained neurodevelopmental disorders and multiple congenital anomalies.Clin Ther. 2023; 45: 702-709Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar Two articles focus on topics of access: disparities in access to sequencing clinical trials and the genetics workforce shortages.8Cakici JA Dimmock D Caylor S et al.Assessing diversity in newborn genomic sequencing research recruitment: race/ethnicity, and primary spoken language variation in eligibility, enrollment, and reasons for declining.Clin Ther. 2023; 45: 745-753Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar,9Borle K Kopac N Dragojlovic N Llorian ER Lynd L. Defining need amid exponential change: conceptual challenges in workforce planning.Clin Ther. 2023; 45: 695-701Abstract Full Text Full Text PDF PubMed Scopus (0) Google Scholar One article focuses explicitly on implementation, describing a program guided by an implementation science framework that aims to identify and eliminate the sources of disparities in access to genomic sequencing.10Serrano JG O'Leary M VanNoy G et al.Advancing understanding of inequities in rare disease genomics.Clin Ther. 2023; 45: 754-762Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar Finally, tying together themes of value, access, and implementation, this update also includes an interview that provides insights into US private payer decision-making. This interview highlights the challenges and opportunities in reimbursement strategies for genomic medicine.11Sherman M Cardeiro D. Specialty Update on Pediatric Genomic Medicine: Conversations with the Editor.in: Smith HS 45. 2023: 690-694Google Scholar Previous studies have found that genomic sequencing for children with suspected genetic conditions has diagnostic utility and may be cost-effective when performed early in the clinical course, particularly for critically ill infants.12Smith HS Swint JM Lalani SR et al.Clinical application of genome and exome sequencing as a diagnostic tool for pediatric patients: a scoping review of the literature.Genet Med. 2019; 21: 3-16Abstract Full Text Full Text PDF PubMed Scopus (76) Google Scholar,13Nurchis MC Riccardi MT Radio FC et al.Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: systematic review and meta-analysis of cost-effectiveness evidence.Health Policy. 2022; 126: 337-345Crossref PubMed Scopus (7) Google Scholar However, many have argued that these previous analyses do not include all relevant costs and benefits pertinent to genomic sequencing interventions. First, studies to date have focused on comparing costs versus the health outcomes of interventions and do not incorporate non-health outcomes.14Regier DA Weymann D Buchanan J Marshall DA Wordsworth S. Valuation of health and nonhealth outcomes from next-generation sequencing: approaches, challenges, and solutions.Value Health. 2018; 21: 1043-1047Abstract Full Text Full Text PDF PubMed Scopus (47) Google Scholar However, it has been shown that individuals who undergo genomic sequencing value the non-health benefits of sequencing, even in the absence of health benefits. These perceived benefits can include improved quality of life for the family through enhanced coping, feeling more in control, connection to peer and other support services, and using information for family planning. Individuals also consider the perceived risks of sequencing in their decision-making, including concerns about discrimination, privacy, and stigma.15Kohler JN Turbitt E Biesecker BB. Personal utility in genomic testing: a systematic literature review.Eur J Hum Genet. 2017; 25: 662-668Crossref PubMed Scopus (96) Google Scholar, 16Kohler JN Turbitt E Lewis KL et al.Defining personal utility in genomics: a Delphi study.Clin Genet. 2017; 92: 290-297Crossref PubMed Scopus (60) Google Scholar, 17Smith HS Morain SR Robinson JO et al.Perceived utility of genomic sequencing: qualitative analysis and synthesis of a conceptual model to inform patient-centered instrument development.Patient. 2022; 15: 317-328Crossref PubMed Scopus (14) Google Scholar However, little to no prior research has elicited the values associated with non-health benefits and risks from genomic sequencing in a manner suitable for incorporation into cost-effectiveness analyses. As a result, prior cost-effectiveness analyses of genome sequencing may not capture all relevant benefits and risks. In this issue, Sheen et al6Sheen D Peasgood T Goranitis I. Eliciting societal preferences for non-health outcomes: a person trade-off study in the context of genomics.Clin Ther. 2023; 45: 710-718Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar make a significant contribution to the field by investigating and quantifying the value that Australian citizens’ place on non-health benefits of genomic sequencing for children with suspected genetic conditions. They find that most individuals place a measurable value on these non-health benefits and are willing to forego some health gains, such as improvements in pain or walking, in exchange for non-health benefits from sequencing. Non-health benefits were described as avoiding a 4-year “diagnostic odyssey,” gaining knowledge of the disease and access to peer support, and being able to make informed family planning decisions. There are additional non-health benefits that may be relevant to family members, and fully understanding the outcomes that are important to individuals and families is an ongoing area of research. In a novel approach to this question, Richards et al4Richards JL Knight SJ. Parents’ perspectives on secondary genetic ancestry findings in pediatric genomic medicine.Clin Ther. 2023; 45: 719-737Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar investigated parents’ interest in receiving information about their ancestry when they receive sequencing results for their child with an undiagnosed disease. The authors find that most parents are interested in receiving ancestry information, in part for non-health reasons, including their interest in their family roots and history. This adds to emerging evidence on what individuals and families value about genomic sequencing. Second, most studies to date have focused on the health outcomes of sequencing to the individual being sequenced, and not family members. Family outcomes are particularly relevant in the context of genomics as the sequencing results can lead to further testing and follow-up of at-risk relatives, a process known as cascade testing. Cascade testing can be prompted by a patient's diagnosis that is related to the primary reason for sequencing, or because of secondary findings, which are gene variants detected during sequencing, unrelated to the primary reason for sequencing. However, there is ongoing debate in the scientific community about whether secondary findings should be returned to family members. There are potential health benefits that may stem from the return of these secondary findings, but there are also risks, including the risk of being denied certain types of insurance in the future and psychological harm. It is also unknown whether the follow-up surveillance and interventions related to these findings are a good use of health care resources. The American College of Medical Genetics and Genomics maintains an evolving minimum list of secondary findings that they recommend clinicians report to patients and family members, and organizations from other countries such as the French Society of Predictive and Personalized Medicine and Genomics England also recommend reporting secondary findings.18Miller DT Lee K Abul-Husn NS et al.ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med. 2023; 100866Abstract Full Text Full Text PDF Scopus (3) Google Scholar, 19Pujol P Vande Perre P Faivre L et al.Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.Eur J Hum Genet. 2018; 26: 1732-1742Crossref PubMed Scopus (33) Google Scholar, 20Genomics England. What are additional findings? 100,000 Genomes Project. Vol 2023. https://www.genomicsengland.co.uk/initiatives/100000-genomes-project/additional-findings.Google Scholar However, the Canadian College of Medical Geneticists and the European Society of Human Genetics recommend restricting the return of results to the original health problem and do not recommend returning secondary findings until there is more information available on the benefits, costs, and risks.21Boycott K Hartley T Adam S et al.The clinical application of genome-wide sequencing for monogenic diseases in Canada: position statement of the Canadian College of Medical Geneticists.J Med Genet. 2015; 52: 431-437Crossref PubMed Scopus (174) Google Scholar,22van El CG Cornel MC Borry P et al.Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.Eur J Hum Genet. 2013; 21: 580-584Crossref PubMed Scopus (343) Google Scholar In response to this gap in knowledge, Ungar et al7Ungar WJ Hayeems RZ Marshall CR et al.Protocol for a prospective observational cost-effectiveness analysis of returning secondary findings of genome sequencing for unexplained neurodevelopmental disorders and multiple congenital anomalies.Clin Ther. 2023; 45: 702-709Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar describe a study protocol that will examine the costs and benefits of returning secondary findings to families of children undergoing exome and genome sequencing in Canada. The authors will collect data on health care utilization, costs, and consequences (clinical utility) for both the child and one caregiver and will further use this information to examine the cost-effectiveness of reporting secondary findings from a health care sector perspective. This study can help inform evidence-based guidelines on reporting secondary findings. Finally, systematic methods to measure the effect of genomic sequencing on clinical decisions are a critical component of analyses that examine the clinical effectiveness and cost-effectiveness of genomic sequencing. However, there is currently not a validated approach to assessing clinical utility by clinician report. In this issue, Hayeems et al5Hayeems RZ Luca S Chad L et al.Assessing the performance of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): further evidence of inter-rater reliability.Clin Ther. 2023; 45: 738-744Abstract Full Text Full Text PDF Google Scholar present evidence on the reliability of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to measure the clinical utility of genomic sequencing. C-GUIDE ratings from 2 clinicians show high inter-rater reliability and provide data to enable further refinement of the instrument. Even with strong evidence to support the clinical effectiveness and cost-effectiveness of genomic sequencing in certain populations, public and private payer coverage remains a challenge. Some barriers to expanded coverage in the US context include the high upfront costs of genomic sequencing, churn between insurance providers, and lack of evidence on the impact of results on downstream health outcomes and health care utilization.23Phillips KA Trosman JR Douglas MP et al.US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: a study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER).Genet Med. 2022; 24: 238-244Abstract Full Text Full Text PDF PubMed Scopus (3) Google Scholar In this Specialty Update, we present an interview with Dr. Michael Sherman, former Chief Medical Officer at Point32Health, and Dawn Cardeiro, Director of Precision Medicine on the Clinical Innovation team at Point32Health, who provide further insight into a payer's perspective on medical policy decision-making for genomic medicine interventions such as genomic sequencing and gene therapies.11Sherman M Cardeiro D. Specialty Update on Pediatric Genomic Medicine: Conversations with the Editor.in: Smith HS 45. 2023: 690-694Google Scholar They discuss opportunities for payment model innovation for new diagnostics and therapeutics, including risk-sharing agreements with manufacturers and other novel approaches. Beyond reimbursement, other challenges to accessing clinical genomic services remain. Individuals from underserved and marginalized communities who have been excluded from genomics research face particularly high access barriers.24Addie S Alper J Beachy SH Understanding Disparities in Access to Genomic Medicine: Proceedings of a Workshop. National Academies of Sciences, Engineering, Medicine. The National Academies Press, Washington, DC2018: 126Google Scholar,25Khoury MJ Bowen S Dotson WD et al.Health equity in the implementation of genomics and precision medicine: a public health imperative.Genet Med. 2022; 24: 1630-1639Abstract Full Text Full Text PDF PubMed Scopus (18) Google Scholar These inequities are caused by a range of factors, including a lack of diversity in clinical trial recruitment due to the failure on the part of researchers to design inclusive studies and build trusting relationships with communities who have previously been harmed by the field of genetics, as well as a lack of access to clinical genetic services.26Gutierrez AM Robinson JO Outram SM et al.Examining access to care in clinical genomic research and medicine: experiences from the CSER Consortium.J Clin Transl Sci. 2021; 5: e193Crossref PubMed Scopus (16) Google Scholar In this issue, Cakici et al8Cakici JA Dimmock D Caylor S et al.Assessing diversity in newborn genomic sequencing research recruitment: race/ethnicity, and primary spoken language variation in eligibility, enrollment, and reasons for declining.Clin Ther. 2023; 45: 745-753Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar expand on what we know about where these disparities emerge in the research pathway, and what factors drive them. Their research investigates barriers to recruitment for genomic sequencing studies based on participant race and ethnicity and primary language spoken. This study shows that families who speak a language other than English or Spanish are less likely to be deemed eligible for newborn sequencing studies, but determinations of eligibility did not vary according to race and ethnicity. Among families who were approached, enrollment rates were neither affected by race and ethnicity nor family's primary language but instead by family stress and concerns about the intervention, including the blood draw. Findings from this research can inform the design of more inclusive study protocols that better address barriers to recruitment of diverse cohorts of patients and families. Other access barriers on the health care provider side include clinician knowledge of genomic medicine options for children and the ability to refer families to appropriate genetic providers for assessment. This is an increasing barrier in genomic medicine, as there are currently not enough genetic counselors or medical geneticists to accommodate the growing demand for genomic sequencing.27Raspa M Moultrie R Toth D Haque SN. Barriers and facilitators to genetic service delivery models: scoping review.Interact J Med Res. 2021; 10: e23523Crossref PubMed Google Scholar Developing policies to mitigate this shortage requires careful projections on how extensive this shortage will be in the future. Borle et al9Borle K Kopac N Dragojlovic N Llorian ER Lynd L. Defining need amid exponential change: conceptual challenges in workforce planning.Clin Ther. 2023; 45: 695-701Abstract Full Text Full Text PDF PubMed Scopus (0) Google Scholar describe a needs-based planning approach for evaluating workforce shortages, challenges for using this method, and recommendations for future evaluations with this method. Continuing the theme of access disparities, Serrano et al10Serrano JG O'Leary M VanNoy G et al.Advancing understanding of inequities in rare disease genomics.Clin Ther. 2023; 45: 754-762Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar present a study protocol for a program that aims to eliminate common barriers to access for communities that are currently underrepresented in clinical and research applications of genomic sequencing, including those of a non-white race, Hispanic or Latinx ethnicity, and those with limited English proficiency, low household income, lower parental education, and non-metropolitan residence. The goal of this program is to expand access to genomic sequencing for children and adults from these groups, while also investigating emerging barriers to access for these populations. The original research, commentaries, and interview presented in this Specialty Update provide evidence and perspectives that can advance pediatric genomic medicine research, clinical care, and policies. Equitable and cost-effective access to genomic medicine will require the collaboration of a range of stakeholders, including patients and families, clinicians, ethicists, health services researchers, health economists, implementation scientists, policy makers, and health care payers, and we are grateful for the many international experts who contributed to this article collection." @default.
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• W4385649870 title "Pediatric Genomic Medicine: Value, Implementation, and Access" @default.
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