Implementation Of Genetic Testing For Detection Of Familial Hypercholesterolemia: Barriers, Strategies And Knowledge Translation

Using implementation strategies to role-play the introduction of a new practice into a clinical setting, explore the controversies and understandings needed to present and implement knowledge translation culminating in a new practice policy for the institution. 

Controversies Associated with Genetic Testing for Familial Hypercholesterolemia

Familial Hypercholesterolemia/Hyperlipidemia or FH is characterized by elevated levels of low density lipoprotein cholesterol or LDL-C and is caused as a result of the autosomal dominant disorder associated with lipoprotein metabolism. The most important cause of genetic coronary heart disease is the heterozygous form of FH. Genetic testing is done in order to provide definite diagnosis of individuals with high levels of LDL-C. Such genetic testing helps to identify mutations in the genes such as LDLR, APOB, PCSK9, among others (Bruikman, Hovingh & Kastelein, 2017).

Some of the controversies associated with genetic testing for detection of high cholesterol levels is that routine screenings of lipid levels by genetic testing are not done and according to the doctors they are able to diagnose the medical condition without the use of such genetic tests. Moreover, the costs associated with genetic testing although is reasonable but such costs are too high with respect to diagnosis of FH. However, physicians do believe that genetic testing would be useful in order to screen families having borderline levels of LDL or an adopted person can determine the FH status due to lack of access to family pedigree. However, genetic testing can be used to detect the presence of mutations that are associated with FH in children below 18 years of age since normal screening procedures will not be useful as these children do not show the presence of coronary heart diseases. Moreover, with the decline in the costs of the genetic tests, the issue associated with affordability does not apply no more (Ncbi.nlm.nih.gov, 2018).

The most common framework guiding knowledge translation is the knowledge to action framework or the KTA framework. The components of the KTA framework is the Knowledge creation and the action cycle. The components of knowledge creation are knowledge inquiry, synthesis and creation of tools for further creation of knowledge. The action cycle on the other hand is associated with the implementation of the knowledge into practice and brings about changes in the attitudes or behavior of individuals (Field et al., 2014).

Knowledge transfer (KT) interventions can be used to bring about changes in the behaviour of individuals with the help of scientific evidence (Grimshaw et al., 2012; White, Dudley-Brown & Terhaar, 2016). Lack of evidence about the benefits of genetic testing prevents appropriate decision making by both healthcare providers as well as the patients. The KT interventions will aim to bring about improvements with respect to increased knowledge, behavior changes and well-being (Allison, 2015). Some of the interventions or strategies are risk communication which involves conveying knowledge, counseling with the aim to provide emotional support, educational outreach campaigns, communicating to the patients as well as the physicians and the insurance companies about the specificity of the estimates about disease risks that are obtained from genetic testing, providing decision aids in the form of interpersonal communications or audio or visual aids that showcase the efficiency of genetic tests for risk assessments. Providing visual or audio recordings of surveys and the feedbacks obtained from the participants. Such strategies will be used to target the healthcare providers and the patients with the aim to obtain favorable outcomes with respect to acceptability and implementation of genetic tests in primary care (Légaré et al., 2016). 

The Knowledge to Action Framework

The individuals who will be involved are patients, the primary care facilities and the insurance companies (Huijgen et al., 2012). The strategies will be targeted towards them with the intention that there will be acceptability of genetic tests in primary care. The interventions will help to increase the knowledge and promote the efficiency of genetic tests among the targeted population. The healthcare professionals like physicians and nurses can participate in the educational outreach programs, which will help them to improve their understanding of the importance of genetic screens in the detection of high cholesterol levels. This in turn would help them to explain to the patients about the importance of genetic screens. Communicating the risk detection of FH with the help of genetic screens to the patients will help them to improve their health and well-being that in turn will prevent the onset of FH. Decision aides would help the patients to increase the uptake of genetic screens (Légaré et al., 2016). Moreover, strategies directed towards the insurance companies like educational programs, decision aides, risk communication can increase their knowledge with respect to the specificity and sensitivity of genetic tests to identify risk factors associated with development of FH. Insurance companies generally have a disregard for genetic tests with respect to their specificity and individuals find it difficult to convince the life insurance companies by evidence of genetic tests only. Thus, such strategies would help the insurance companies to understand the importance of genetic tests thereby paving the way for the patients to obtain life insurance early after detection by genetic tests, thereby helping in early diagnosis and timely treatment (Joly, Feze & Simard, 2013). 

Some of the barriers associated with the implementations are lack of knowledge about the downstream outcomes associated with genetic testing, lack of referral guidelines, negative attitudes of the physicians, patients as well as the providers with respect to efficiency and cost-effectiveness and inability to get insurance based on genetic testing (deGoma et al., 2016). Lack of genetic knowledge and competence also acts as a barrier to implementation of genetic testing. Another factor that can act as a barrier is the lack of health technology assessment for the implementation of genetic tests. The lack of translation of genomic research into health practice is another barrier that can prevent the implementation of the genetic testing for detection of familial hyperlipidemia. The low predictive vale can also act as a barrier as it can undermine the trust of both healthcare professionals as well as citizens. Lack of approval and ethical issues can also act as barriers (Cornel & van El, 2017).

Knowledge Translation (KT) Interventions

Barriers can be overcome by education of the physicians and awareness of the public with respect to the efficiency of the genetic tests by providing the evidence of its effectiveness in other countries, educating the insurance companies about the importance of genetic screens for detection of FH. The cost effectiveness of the interventions should also be indicated to the patients as well as the providers (Farnier et al., 2017; Bell & Watts, 2015; Joly, Feze & Simard, 2013). Training of healthcare professionals and increased amounts of translational research in the field of genetic tests can help to overcome the barriers and also help to increase the predictive value of such tests that can act as a negotiating factor in the future with respect to implementation of genetic tests (Cornel & van El, 2017). 

Reference List

Allison, M. (2015). Communicating risk with relatives in a familial hypercholesterolemia cascade screening program: a summary of the evidence. Journal of Cardiovascular Nursing, 30(4), E1-E12.

Bell, D. A., & Watts, G. F. (2015). Screening for familial hypercholesterolemia: primary care applications. Clinical Lipidology, 10(4), 295-298.

Bruikman, C. S., Hovingh, G. K., & Kastelein, J. J. (2017). Molecular basis of familial hypercholesterolemia. Current opinion in cardiology, 32(3), 262-266.

Cornel, M. C., & van El, C. G. (2017). Barriers and Facilitating Factors for Implementation of Genetic Services: A Public Health Perspective. Frontiers in public health, 5, 195.

deGoma, E., Ahmad, Z., O’Brien, E., Kindt, I., Shrader, P., & Newman, C. et al. (2016). Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States CLINICAL PERSPECTIVE. Circulation: Cardiovascular Genetics, 9(3), 240-249.

Farnier, M., Civeira, F., Descamps, O., & FH expert working group. (2017). How to implement clinical guidelines to optimise familial hypercholesterolaemia diagnosis and treatment. Atherosclerosis Supplements, 26, 25-35.

Field, B., Booth, A., Ilott, I., & Gerrish, K. (2014). Using the Knowledge to Action Framework in practice: a citation analysis and systematic review. Implementation Science, 9(1), 172.

Grimshaw, J. M., Eccles, M. P., Lavis, J. N., Hill, S. J., & Squires, J. E. (2012). Knowledge translation of research findings. Implementation science, 7(1), 50.

Huijgen, R., Homsma, S. J., Hutten, B. A., Kindt, I., Vissers, M. N., Kastelein, J. J., & van Rijckevorsel, J. L. (2012). Improved access to life insurance after genetic diagnosis of familial hypercholesterolaemia: cross-sectional postal questionnaire study. European Journal of Human Genetics, 20(7), 722-728.

Joly, Y., Feze, I. N., & Simard, J. (2013). Genetic discrimination and life insurance: a systematic review of the evidence. BMC medicine, 11(1), 25.

Légaré, F., Robitaille, H., Gane, C., Hébert, J., Labrecque, M., & Rousseau, F. (2016). Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions. PloS one, 11(3), e0150123.

Ncbi.nlm.nih.gov. (2018). Familial Hypercholesterolemia Captures Gene Test Controversies. Retrieved 25 January 2018, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873730/

White, K. M., Dudley-Brown, S., & Terhaar, M. F. (Eds.). (2016). Translation of evidence into nursing and health care. Springer Publishing Company.