Implementing genomic medicine in the clinic: the future is here

Abstract

Although the potential for genomics to contribute to clinical care has long been anticipated, the pace of defining the risks and benefits of incorporating genomic findings into medical practice has been relatively slow. Several institutions have recently begun genomic medicine programs, encountering many of the same obstacles and developing the same solutions, often independently. Recognizing that successful early experiences can inform subsequent efforts, the National Human Genome Research Institute brought together a number of these groups to describe their ongoing projects and challenges, identify common infrastructure and research needs, and outline an implementation framework for investigating and introducing similar programs elsewhere. Chief among the challenges were limited evidence and consensus on which genomic variants were medically relevant; lack of reimbursement for genomically driven interventions; and burden to patients and clinicians of assaying, reporting, intervening, and following up genomic findings. Key infrastructure needs included an openly accessible knowledge base capturing sequence variants and their phenotypic associations and a framework for defining and cataloging clinically actionable variants. Multiple institutions are actively engaged in using genomic information in clinical care. Much of this work is being done in isolation and would benefit from more structured collaboration and sharing of best practices.Genet Med 2013:15(4):258–267

Factors influencing organizational adoption and implementation of clinical genetic services

“…Informed by the seven steps (noted in italics) for successful diffusion of innovations, we propose the following implementation strategies for the VHA's national Genomic Medicine Service: support technology assessment to inform evidence-based guidance and policy for genomic applications (find sound solutions); act as the hub to support and unify the clinical genetic programs that exist throughout the system (find and support innovators, invest in early adopters), and provide genetic counseling services via telehealth where such expertise is lacking (lead by example); convene meetings, perhaps virtually, of the genetic service providers in the VHA and highlight accomplishments to clinical and administrative leadership (make early adopter activity visible); and foster development of educational materials and clinical tools in the electronic health record systems at each VHA facility, creating opportunities for genetic service utilization (create slack for change) with the ability for local adaptation (trust and enable reinvention). 16 In a recent review paper, Manolio et al 3 provide many specific suggestions for solutions to implementation challenges that are compatible with those suggested here.…”

“…1,2 Furthermore, even when genomic applications have proven validity and utility, there is low adoption within health-care organizations. 3 Barriers to the adoption of genetic services have been identified at multiple levels: healthcare systems lack structures and processes to facilitate genetic medicine practice; health professionals are not typically educated in genetics and have little time to incorporate genetic services into their practice; and guidelines for genetic testing, referral, and management are limited. [4][5][6][7][8] Addressing barriers to implementation is complex, requiring a multilevel approach that targets patient, provider, organizational, and policy issues.…”

Challenges of using next generation sequencing in newborn screening

“…Though most studies are performed in order to establish diagnoses in individuals with rare and clinically unrecognizable disorders, due to the constantly decreasing costs and commercial (academic and industrial) availability, in some centres there is inclination to use this tool for other purposes in at risk and even in healthy adult populations (Manolio et al, 2013;Biesecker & Green, 2014;Feero, 2014). For example, exome sequencing in patients with clinically recognized disorders when more than one gene is responsible for the phenotype is sometimes more cost-effective compared to a limited gene panel (i.e.…”

The advancements of genomics and data integration in sarcoma research

“…Nonetheless, despite the advances in genomic research and integration as noted above, there are still significant challenges before translating these findings into the clinic. A few broad difficulties that are being encountered include a lack of consensus among researchers and lack of standardization of the most relevant genomic features, an increased burden on clinicians and patients, infrastructural difficulties in storing and interpreting the data, and electronic health record (EHR)-related issues in patient privacy and accessibility of data [104][105][106] . Fortunately, both academic and commercial efforts are underway to translate genomic findings into clinically-actionable results as well as design and build the infrastructure necessary to tackle EHR issues [107][108][109][110][111][112] .…”