The Confluence of Psychiatric Symptoms and Neurodegenerative Disease: Impact on Genetic Counseling

Abstract

Hereditary neurodegenerative diseases can present with a psychiatric prodrome that overlaps with psychiatric symptoms that are not primary to these diseases. When individuals present for predictive testing while experiencing such symptoms, clinicians including genetic counselors, must proceed with caution and evaluate each situation on a case-by-case basis. Legitimate reasons may exist for moving forward with testing. Additionally predicting the consequences of testing is unrealistic so that the clinicians must do their best to prepare patients for both positive and negative results. A multidisciplinary team following the Huntington disease protocol remains the gold standard care for predictive testing for such patients. We discuss 3 case histories that demonstrate the complex nature of genetic counseling and testing in the presence of psychiatric symptoms, whether emanating from the disease itself or the results of living in an affected family.

Patient and Relative Experiences and Decision-making About Genetic Testing and Counseling for Familial ALS and FTD

“…However, perhaps distinct from other LONDs, residual uncertainty may remain in fALS/fFTD pathogenic variant carriers, given variable penetrance and expressivity 3. Depression and suicidal behavior may also be induced or worsen after predictive testing for LONDs,48 particularly at specific time points in the illness trajectory70–74 or due to the psychiatric phenotype within certain kindreds 57,75,76. The issues raised here support a multidisciplinary, person-centered care approach to pretest and posttest predictive test counseling as recommended by the HD protocol77 and recent ALS guidelines 78.…”

“…The issues raised here support a multidisciplinary, person-centered care approach to pretest and posttest predictive test counseling as recommended by the HD protocol77 and recent ALS guidelines 78. Counseling should ensure an autonomous and informed decision is being made,57,77 that family communication and support is explored,4,33,49,77 and posttest support is provided regardless of whether the result is positive or negative 33,45,77,79. Telephone or telehealth appointments may be of benefit, as has been demonstrated by the continued emergence of telehealth in health care 80,81.…”

“…The included population consisted of affected individuals, at-risk individuals, and other related or unrelated family members. Eleven studies included only a single person or family with, or at risk of, ALS/FTD 38–41,46,49–51,56–58. The total number of included patients, families and at-risk relatives was not calculated due to missing information or differences in defining familial and sporadic disease.…”

Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014–2016

“…Translational genetic research pertaining to countless diseases has also amplified the value and necessity of clinical genetic counseling in less traditional specialties. For example, due to recent genomic discoveries leading to increased clinical options, neurodegenerative disease, mental illnesses, and multifactorial conditions make up just a sample of the areas that require a depth of understanding and an ability to have lengthy appointments with patients (Goldman, Huey, & Thorne, ). According to a recent study on the benefits of counseling about addiction, patient interest in genetics is increasing demand for clinical genetic counselors (Kalb, Vincent, Herzog, & Austin, ).…”

Insights into the Pathophysiology of Psychiatric Symptoms in Central Nervous System Disorders: Implications for Early and Differential Diagnosis

“…Depression during the preclinical stages of AD and bvFTD can be often associated with other affective symptoms and mood changes [ 15 , 33 ]. Similarly, affective symptoms are already present at the time of diagnosis in PD and HD in a percentage of cases up to 30%, and may precede neurological symptoms of several years [ 5 , 34 , 35 ]. Noteworthy, depressive and anxiety symptoms are listed among clinical markers of prodromal PD in the most updated diagnostic criteria [ 36 , 37 ].…”