Isa J. Houwink, M.D., Ph.D.

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SUMMARY

The research interests and educational involvement of Elisa (Isa) J. Houwink, M.D., Ph.D., include prevention, screening and early-detection modalities in common and rare diseases making use of family history and genetic testing. She also is interested in implementing pharmacogenetics in primary care practice.

Focus areas

• Bench-to-bedside translation. The foundations of Dr. Houwink's research interests in different laboratories in the U.S. began with examining how clinical research can affect daily medical practices and improve patient care. Bringing evidence-based innovations from the laboratory into the clinic setting thus became her overarching research passion.
• Clinical validity and utility. After finishing her Ph.D., Dr. Houwink began to think about the clinical validity and utility of genetic and pharmacogenomic findings. Ongoing discussions among funding and government agencies focused on whether innovations in genetics and pharmacogenetics could translate to better patient outcomes, who should be financially responsible for testing, and how the findings should be communicated and acted upon. Dr. Houwink became a member of the Dutch Pharmacogenomics Working Group, where her essential viewpoints from a family physician standpoint contributed to the published guidelines. She is currently a member of the Clinical Pharmacogenetics Implementation Consortium Guideline Committee and various expert and working groups, lending her insights from a primary care perspective.
• Family health history. In line with her mission to bring genetics and pharmacogenetics into primary care practice, Dr. Houwink works to ensure that patients' detailed family health histories are reported and recorded using artificial intelligence (AI) and electronic health record (EHR) platforms. Technologies and concepts relevant to this area of study include eHealth, Personal Genetic Locker, bioinformatics and data ethics.
• Integrating genetics into clinical research and practice. Dr. Houwink's research evolved as she realized effective education is not the only thing needed to effectively implement genetics into daily primary care practice. In addition to the education, there needs to be a clear roadmap to stepwise integration of guidelines, clarity on roles and responsibilities, integration in electronic health care records and eHealth, and blended care models. In order to make full use of family health history, genetics, and pharmacogenetics to prevent and diagnose rare and common diseases alike and prevent adverse drug reactions at a much larger scale, multidisciplinary work on integrating this knowledge through eHealth, AI and bioinformatics is urgently needed.
• Hereditary diseases. Dr. Houwink focuses on the prevention and early detection of common hereditary diseases such as breast and ovarian cancers related to mutations on the BRCA genes; colon, endometrial and other cancers related to Lynch syndrome; cardiovascular diseases such as hypertrophic cardiomyopathy, long QT syndrome and familial hypercholesterolemia (FH); and endocrine disruptions such as maturity-onset diabetes of the young (MODY) and latent autoimmune diabetes of adults (LADA). She also works on earlier detection and prevention for rare genetic diseases such as hemoglobinopathy and Rett syndrome in the primary care setting. Rare diseases now constitute a public health problem in urgent need of improved public awareness, population health management and clinical training.
• Genetics and genomics training. To make full use of genetics in daily practice, implementation strategies must be improved. Health care professionals in primary care are increasingly expected to deliver genetic services in daily patient care and must be prepared to provide information and advice on genetic testing. However, postgraduate and master's programs in primary care and public health are currently failing to meet these educational needs, necessitating improvements in genetics and genomics education for primary care providers to keep pace with the rapid developments in the field. Dr. Houwink's Ph.D. project titled "Training in Genetics and Genomics," focused on current genomics developments with primary care workers, aiming to help them identify their learning priorities.
• Family health history and genetics in primary care. Because genetic and pharmacogenetic testing is not mainstream yet, Dr. Houwink works on developing and validating a family health history questionnaire which could be used in combination with genetic testing and polygenic risk scores. This method could provide an effective family health history tool to predict disease and reduce implementation gaps.
• Rare diseases. Using hemoglobinopathies as an example, most severe rare genetic diseases have few treatment options, so the timely detection of carriers allows at-risk couples to make informed reproductive decisions. Using a quantitative design, Dr.Houwink's team evaluated the prevalence of hemoglobinopathies in The Hague region of The Netherlands. The study results reflected a need to increase awareness of hemoglobinopathy, improve competences among family practice physicians through better education, and improve communication with patients and their unidentified family members. This study showed the scope of the problem and the critical need for action to improve informed reproductive decision-making for the at-risk population.

Significance to patient care

Identifying common and rare diseases is necessary for the implementation of timely treatment, and avoiding adverse drug reactions in primary care requires an integrated and multidisciplinary diagnostic strategy. The health and vital functioning of citizens in an aging economy could become reality when technology and social medicine are bridged. Individualized risk stratification depends on proactive and accurate diagnostics, considering genetic, pharmacogenetic, and environmental factors and drug interactions.

Professional highlights

• Member, Dutch Pharmacogenetics Working Group, 2015-present.
• European Health Award, "Equipping European Primary Care Health Professionals to Deal with Genetics," European Health Foundation Gastein, 2017.
• Cum laude postdoctorate research project, “Developing Training in Genetics/Genomics for Primary Care Health Workers," 2013.