Participant-reported personal utility of genetic testing for Parkinson's disease and interest in clinical trial participation.

Genetic testing for Parkinson's disease (PD) is infrequently performed due to perceptions of low utility. We investigated the personal utility in PD GENEration and how results lead to enrollment in additional research studies. Participants (n = 972) underwent genetic testing, results disclosure, genetic counseling, and completed a survey examining the perceived personal utility of their results and interest in participating in additional studies.

Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

Variants in seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7 and VPS35) have been formally adjudicated as causal contributors to Parkinson's disease; however, individuals with Parkinson's disease are often unaware of their genetic status since clinical testing is infrequently offered. As a result, genetic information is not incorporated into clinical care, and variant-targeted precision medicine trials struggle to enrol people with Parkinson's disease. Understanding the yield of genetic testing using an established gene panel in a large, geographically diverse North American population would help patients, clinicians, clinical researchers, laboratories and insurers better understand the importance of genetics in approaching Parkinson's disease.

Delivering Genetic Test Results for Parkinson Disease: A Qualitative Approach to Provider Experiences in the PD GENEration Study.

Background And Objectives: The PD GENEration (PD GENE) study (NCT04057794) is an interventional clinical trial offering genetic testing with result disclosure and genetic counseling to individuals with Parkinson disease (PD). In general, experiences of those providing PD genetic testing and counseling in a research or clinical setting have not been extensively evaluated. In this study, providers' experiences when providing research result disclosure and genetic counseling to people with PD were explored with the goal of improving PD genetics services.

Providing genetic testing and genetic counseling for Parkinson's disease to the community.

Purpose: To evaluate the feasibility and impact of offering genetic testing and counseling to patients with Parkinson's disease (PD), with the potential to enroll in gene-targeted clinical trials and improve clinical care.

Methods: A multicenter, exploratory pilot study at 7 academic hospital sites in the United States tracked enrollment and randomized participants to receive results and genetic counseling at local sites or by genetic counselors, remotely. Follow-up surveys measured participant/provider satisfaction, knowledge, and psychological impact.

What we don't need to prove but need to do in multidisciplinary treatment and care in Huntington's disease: a position paper.

Background: Huntington's disease is a complex neurodegenerative hereditary disease with symptoms in all domains of a person's functioning. It begins after a healthy start in life and leads through the relentless progression over many years to complete care dependency and finally death. To date, the disease is incurable.

Factors Associated With the Place of Death in Huntington Disease: Analysis of Enroll-HD.

Most people prefer to die at home. Hospice is the standard in end-of-life care for people with Huntington disease (HD), a neurodegenerative genetic disorder that affects people in middle adulthood. Yet, we have little knowledge regarding the place of death for people with HD.

Death Anxiety in Huntington Disease: Longitudinal Heath-Related Quality-of-Life Outcomes.

Death anxiety, represented by the HDQLIFE™ Concern with Death and Dying (CwDD) patient-reported outcome (PRO) questionnaire, captures a person's worry about the death and dying process. Previous work suggests that death anxiety remains an unremitting burden throughout all stages of Huntington disease (HD). Although palliative interventions have lessened death anxiety among people with advanced cancer, none has yet to undergo testing in the HD population.

Tools for communicating risk for Parkinson's disease.

We have greater knowledge about the genetic contributions to Parkinson’s disease (PD) with major gene discoveries occurring in the last few decades and the identification of risk alleles revealed by genome-wide association studies (GWAS). This has led to increased genetic testing fueled by both patient and consumer interest and emerging clinical trials targeting genetic forms of the disease. Attention has turned to prodromal forms of neurodegenerative diseases, including PD, resulting in assessments of individuals at risk, with genetic testing often included in the evaluation.

Coordination of Care Among Physical Therapists and Neurologists in Huntington Disease.

This study presents a framework for physical therapy through the course of Huntington disease (HD) which includes coordinated care plans with neurologists. HD is an inherited neurodegenerative disorder that leads to impaired strength and coordination and ultimately progressive loss of function. Interdisciplinary HD care teams provide patient-centered, comprehensive evaluations and make recommendations for pharmacologic, healthcare, and lifestyle interventions based on best available evidence.

Quality Improvement in Parkinson's Disease: A Successful Program to Enhance Timely Administration of Levodopa in the Hospital.

Background: Patients hospitalized with Parkinson's disease (PD) require timely delivery of carbidopa-levodopa (C/L) medication. Ill-timed administration of C/L doses is associated with greater morbidity and longer lengths of stay.

Objective: To understand the barriers to timely C/L administration, and implement strategies to improve the administration of the drug to hospitalized PD patients.

Correction: Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists.

Purpose: Genetic testing for Parkinson disease (PD) has not been widely used in clinical practice. In preparation for upcoming precision medicine-designed clinical trials for GBA and LRRK2, we evaluated movement disorders specialists' current practice, knowledge, attitudes, and barriers to genetic testing in PD.

Methods: An anonymous questionnaire was sent to movement disorders specialists at 146 Parkinson Study Group (PSG) sites in the United States (n = 131) and Canada (n = 15) to assess their knowledge and attitudes about genetic testing for PD.

End-of-life measures in Huntington disease: HDQLIFE Meaning and Purpose, Concern with Death and Dying, and End of Life Planning.

Background And Purpose: Huntington disease (HD) is a progressive neurodegenerative disorder. There are no HD-specific measures to assess for end-of-life (EOL) preferences that have been validated for clinical use. The purpose of this study is to demonstrate reliability and validity of three HD-specific EOL measures for use in and clinical research settings.

Use and perceived effectiveness of complementary therapies in Parkinson's disease.

Introduction: Complementary therapies are commonly used by people with Parkinson's disease to relieve symptoms not fully addressed by pharmacologic and rehabilitation therapies currently available through medical clinics and programs. Three prior surveys in the US have shown that 40-85% of patients have used complementary therapies. We were interested in understanding what complementary therapies (CTs) our patients had used, to treat what symptoms, and whether they felt that the treatments were effective.

Agreement between clinician-rated versus patient-reported outcomes in Huntington disease.

Background: Clinician-rated measures of functioning are often used as primary endpoints in clinical trials and other behavioral research in Huntington disease. As study costs for clinician-rated assessments are not always feasible, there is a question of whether patient self-report of commonly used clinician-rated measures may serve as acceptable alternatives in low risk behavioral trials.

Aim: The purpose of this paper was to determine the level of agreement between self-report and clinician-ratings of commonly used functional assessment measures in Huntington disease.

A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease.

Aim: The symptoms of Huntington's disease are well known, yet the symptoms of juvenile Huntington's disease (JHD) are less established due to its rarity. The study examined a cluster of symptoms considered to be common, but under-recognized in JHD: pain, itching, sleeping difficulties, psychosis and tics.

Materials & Methods: A symptom survey was constructed using the online tool Qualtrics and dispersed to JHD caregivers through websites.

Reliability and Validity of the HD-PRO-TriadTM, a Health-Related Quality of Life Measure Designed to Assess the Symptom Triad of Huntington's Disease.

Background: Huntington's disease (HD), is a neurodegenerative disorder that is associated with cognitive, behavioral, and motor impairments that diminish health related quality of life (HRQOL). The HD-PRO-TRIADTM is a quality of life measure that assesses health concerns specific to individuals with HD. Preliminary psychometric characterization was limited to a convenience sample of HD participants who completed measures at home so clinician-ratings were unavailable.

Genetics of Huntington disease.

In this chapter, we review the evolution of our understanding of the genetic aspects of HD, and the applications of our understanding in the management of Huntington's disease patients and families over the last 150 years. Important aspects of the clinical genetics and epidemiology of Huntington's disease are discussed, such as the definition of "normal" and "abnormal" numbers of CAG (cytosine-adenine-guanine) repeats in the critical spot within the huntingtin gene, meiotic instability of CAG repeat numbers, common Huntington's disease genetic haplotypes, compound heterozygosity for an abnormal gene, and somatic mosaicism for CAG repeat expansions. We touch only briefly on the creation of multiple animal models for Huntington's disease that have profoundly impacted our understanding of the disease and permitted the development of potential disease-modifying treatments, and end with what is, at the time of writing, the dawn of a new era: the advent of gene-based therapies (gene silencing, gene editing) for Huntington's disease.