Family health history (FHH) is a valuable yet underused healthcare tool for assessing health risks for both prevalent disorders like diabetes, cancer, and cardiovascular diseases, and for rare,... Show moreFamily health history (FHH) is a valuable yet underused healthcare tool for assessing health risks for both prevalent disorders like diabetes, cancer, and cardiovascular diseases, and for rare, monogenic disorders. Full implementation of FHH collection and analysis in healthcare could improve both primary and secondary disease prevention for individuals and, through cascade testing, make at risk family members eligible for pre-symptomatic testing and preventative interventions. In addition to risk assessment in the clinic, FHH is increasingly important for interpreting clinical genetic testing results and for research connecting health risks to genomic variation. Despite this value, diverse implementation gaps in clinical settings undermine its potential clinical value and limit the quality of connected health and genomic data. The NHGRI Family Health History Group, an open-membership, US-based group with international members, believes that integrating FHH in healthcare and research is more important than ever, and that achievable implementation advances, including education, are urgently needed to boost the pace of translational utility in genomic medicine. An inventory of implementation gaps and proposed achievable strategies to address them, representing a consensus developed in meetings from 2019-2020, is presented here. The proposed measures are diverse, interdisciplinary, and are guided by experience and ongoing implementation and research efforts. Show less
The aim of this thesis is to investigate the adoption of PGx and the integration of genotype guided dosing in the workflow of physicians and pharmacists in primary care. This thesis is divided into... Show moreThe aim of this thesis is to investigate the adoption of PGx and the integration of genotype guided dosing in the workflow of physicians and pharmacists in primary care. This thesis is divided into five parts. The first part provides an overview of answers to frequently asked questions by clinicians related to the implementation of PGx. The second part of this covers investigates whether genotype guided dosing in primary care is feasible in a pilot study where 200 patients with an incident prescription for a subset of 10 drugs and historical use are genotyped in a panel based approach for 8 pharmacogenes and received genotype guided dosing based on recommendations of the DPWG guidelines and covers an assessment of the clinical impact of PGx in primary care in the Netherlands is provided to predict how many patients that start with a drug currently described in the guidelines of the DPWG require an optimization of therapy. Part III covers the harmonization of PGx-test interpretation and therapeutic recommendations. Part IV investigates the knowledge, experience and attitudes towards PGx among (future) healthcare professionals. The thesis is concluded with a general discussion. Show less
