Gaps in Health Services Research on Genetic Testing Applications, Study notes of Genetics

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Gaps in Health Services

Research on Genetic

Testing Applications

HSRProj Student Competition 2018

Hadley Stevens Smith, MPSA, PhD Candidate

UTHealth School of Public Health

Presentation Overview  Introduction to genetic testing and relevance to health services research  Methods  Results  Other evidence  Conclusions

Translational Research in Genetic Medicine

 Health services research (HSR)

related to patient access, clinical

uptake, implementation, process

of result disclosure, cost-

effectiveness, and impacts on

health disparities (T2 – T4) makes

up less than 3% of genetics

literature.^2

 However, research phase of

research has not yet been

explored using an HSR database, in

which later stage evaluation is

more pertinent.

Research Stage Genetic Medicine Example

T

Development of a genetic

test from basic science

research

T

Use of the genetic test in

practice and guideline

development

T

Evaluation of guidelines in

clinical practice

T

Health outcomes analysis

from clinical application

2. Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley L. The continuum of translation research in genomic medicine: how can we a ccelerate the a ppropriate integration of human genome discoveries into health care a nd disease prevention? Genet Med. 2007;9:655-674.

Translation Research Phases Table 1 in Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley L. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? Genet Med. 2007;9:655-674. From the National Office of Public Health Genomics Centers for Disease Control and Prevention, Atlanta, Georgia.

Methods  Abstracts in the HSRProj database (November 2017 full download) were searched for: “genetic”, “genome”, “precision medicine”, and “personalized medicine”.  MeSH terms were searched for “Genetic Research”.  Each abstract was screened for relevance after duplicates were removed.  Abstracts with an evaluation aim along the translational spectrum of a genetic test were included.

Methods – Second Database  Clinical genetic testing landscape was assessed via the National Center for Biotechnology Information’s Genetic Testing Registry (GTR), a public database of all available genetic tests. 3

 Goal of GTR is “to advance the public health and research into the genetic

basis of health and disease.”^4

 GTR was filtered for clinical tests only. Germane abstracts were categorized by translation phase and test purpose as per GTR typology.

3. Rubinstein WS, Maglott DR, Lee JM, et al. The NIH genetic testing registry: a new, centralized database of genetic tests to enable a ccess to compreh ensive information and i mprove transparency. Nucleic Acids Research. 2013;41(D1):D925-D935.
4. https ://osp.od.nih.gov/scientific-sharing/genetic-testing-registry/

Count Year

Figure 1. Number of Tests and Project Initial Year

GTR Tested Conditions (thousands) GTR Tested Genes (thousands)

Figure 1 shows the number of projects initiated each year and the size of the

GTR. While no projects have been initiated since 2008, the number of tests in the

GTR has steadily risen since its creation in 2012.

Proposed research in each

abstract was classified as T

(n=18), T2 (n=31), T3 (n=14),

while no T4 studies were

identified (Figure 2).

Most evaluations were of

diagnostic tests (n=25) and

predictive tests (n=18), followed

by therapeutic management

(n=9), mutation confirmation

(n=7), pre-implantation genetic

diagnosis (n=2), and pre-

symptomatic detection (n=2).

T1, 18 , 29%

T2, 31 , 49%

T3, 14 , 22%

T4, 0 , 0%

Figure 2. Evaluation Research by Translation Stage

Corroborating Findings – Systematic Literature Reviews

 Overall, systematic reviews conclude lack of consistent measurement of outcomes, clinical utility,

and economic evaluation; need for increased HSR research of genetic tests

Payne K, Gavan SP, Wright SJ, Thompson AJ. Cost-effectiveness analyses of genetic and genomic diagnostic tests. Nature Reviews Genetics. 2018;19:235. “It is now time to direct funding to support the empirical research needed to develop the use of decision analytic model-based CEAs of genomic tests while being cognizant of the known methodological, technical, practical and organizational challenges to maximize the potential benefits to patient populations.” Phillips KA, Deverka PA, Sox HC, et al. Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research. Genetics In Medicine. 2017;19:1081. “In summary, we found a very limited body of evidence about the effect of using genomic tests on health outcomes and many evidence gaps for CER to address.” Schwarze K, Buchanan J, Taylor JC, Wordsworth S. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. Genetics In Medicine. 2018. “The current health economic evidence base to support the more widespread use of WES and WGS in clinical practice is very limited. Studies that carefully evaluate the costs, effectiveness, and cost-effectiveness of these tests are urgently needed to support their translation into clinical practice. “ Smith HS, Swint, JM, Lalani, SR, Yamal, J-M. de Oliveira Otto MC, Castellanos S, Taylor A, Lee BH, Russell HV. Clinical Application of Whole Genome and Whole Exome Sequencing as a Diagnostic Tool: A Scoping Review of the Literature. Forthcoming Genet Med. Lack of consistent outcome measurement, clinical utility assessment, robust economic evaluation

Conclusion  Genetic tests are increasingly available; however, HSR lags behind.  HSR on stages T2-T4 is needed to inform the evidence-based use of genetic tests and study the population health impact of these costly yet promising tools.  Evaluation of genetic services is critical in the development of clinical policy and payer policy, which, in turn, influence clinical uptake.  Given the identified gap in HSR research, evaluations of genetic services should be prioritized to keep pace with availability and use.