Building an infrastructure to enable delivery of genomic medicine

Hooker, Gillian W.

doi:10.1002/ajmg.c.31881

Cited by 7 publications

(4 citation statements)

References 7 publications

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“…Across the United States, insurance coverage for medically indicated genetic testing varies considerably, both by state and the type of testing covered (i.e., non-invasive prenatal testing vs. whole exome sequencing) (Babu et al, 2020). Further, determining whether a genetic test will be covered by a patient's insurance can be incredibly difficult, as discussed by Hooker (2020), potentially impeding testing and posing another barrier to adequate genetic care for our patients. Clearer and more streamlined reimbursement models that cover all medically indicated genetic tests are needed.…”

Section: Discussionmentioning

confidence: 99%

Delayed diagnosis and racial bias in children with genetic conditions

Omorodion

Dowsett

Clark

et al. 2022

American J of Med Genetics Pt A

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As more therapeutics for genetic conditions become available, the need for timely and equitable genetic diagnosis has become urgent. Using clinical cases, we consider the health system-, provider-, and patient-level factors that contribute to the delayed diagnosis of genetic conditions in pediatric patients from minority populations, leading to health disparities between racial groups. We then provide suggestions to address these factors, with the aim of improving minority health and access to genetic care for all children.

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Section: Discussionmentioning

confidence: 99%

Delayed diagnosis and racial bias in children with genetic conditions

Omorodion

Dowsett

Clark

et al. 2022

American J of Med Genetics Pt A

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“…Our study also elucidates the scarcity of practical expertise and infrastructure essential for genetic services in Africa, emphasizing the criticality of building a skilled workforce and establishing robust infrastructure for the success of genetic services. Hooker (2021) articulated the importance of building an infrastructure to enable the delivery of genomic medicine [34]. The exorbitant costs associated with genetic testing and counselling services present another major obstacle, particularly in resource-limited settings, where nancial constraints can signi cantly impede access.…”

Section: Main Theme Subthemementioning

confidence: 99%

Navigating the Genetic Frontier for the Integration of Genetic Services into African Healthcare Systems: A scoping review

Kamga,

Fonkam,

Nguefack

et al. 2024

Preprint

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Background: The integration of genetic services into African healthcare systems is a multifaceted endeavor marked by both obstacles and prospects. This study aims to furnish evidence-based recommendations for policymakers and healthcare entities to facilitate the effective assimilation of genetic services within African healthcare systems. Methods: Employing a scoping review methodology, we scrutinized peer-reviewed studies spanning from 2003 to 2023, sourced from PubMed, Scopus, and Africa-wide databases. Our analysis drew upon eight pertinent research studies conducted between 2016 and 2023, encompassing diverse genetic topics across six African nations, namely Cameroon, Kenya, Nigeria, Rwanda, South Africa, and Tanzania. Results: The reviewed studies underscored numerous challenges hindering the implementation of genetic services in African healthcare systems. These obstacles encompassed deficiencies in disease awareness and education, impediments to genetic testing, resource scarcities, ethical quandaries, and issues related to follow-up and retention. Nevertheless, the authors also identified opportunities and strategies conducive to successful integration, emphasizing proactive measures such as community engagement, advocacy, and the fostering of supportive networks. Conclusion: The integration of genetic services in Africa holds promise for enhancing healthcare outcomes but also poses challenges and opportunities for healthcare and biotechnology enterprises. To address gaps in disease awareness, we advocate for healthcare providers to invest in educational initiatives, forge partnerships with local institutions, and leverage digital platforms. Furthermore, we urge businesses to innovate and devise cost-effective genetic testing models while establishing online forums to promote dialogue and contribute positively to African healthcare.

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“…Driven by phenotype and family history, single gene testing, panel testing, WES or WGS are increasingly being ordered clinically as genetic testing options continue to expand. In 2020 there were 166,703 genetic tests available for ordering ( 46 ). Genomic testing is also rapidly increasing in the research arena as a result of large-scale precision medicine initiatives.…”

Section: The Frequency Of Genetic Testing Is Rapidly Increasingmentioning

confidence: 99%

Evolving cardiovascular genetic counseling needs in the era of precision medicine

Morales

Goehringer

Sanoudou

2023

Front. Cardiovasc. Med.

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In the era of Precision Medicine the approach to disease diagnosis, treatment, and prevention is being transformed across medical specialties, including Cardiology, and increasingly involves genomics approaches. The American Heart Association endorses genetic counseling as an essential component in the successful delivery of cardiovascular genetics care. However, with the dramatic increase in the number of available cardiogenetic tests, the demand, and the test result complexity, there is a need not only for a greater number of genetic counselors but more importantly, for highly specialized cardiovascular genetic counselors. Consequently, there is a pressing need for advanced cardiovascular genetic counseling training, along with innovative online services, telemedicine, and patient-facing digital tools, as the most effective way forward. The speed of implementation of these reforms will be of essence in the translation of scientific advancements into measurable benefits for patients with heritable cardiovascular disease and their families.

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Building an infrastructure to enable delivery of genomic medicine

Cited by 7 publications

References 7 publications

Delayed diagnosis and racial bias in children with genetic conditions

Delayed diagnosis and racial bias in children with genetic conditions

Navigating the Genetic Frontier for the Integration of Genetic Services into African Healthcare Systems: A scoping review

Evolving cardiovascular genetic counseling needs in the era of precision medicine

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