Excavating the Personal Genome: The Good Biocitizen in the Age of Precision Health
Sandra Soo‐Jin Lee
In a new collection of essays edited by Joel Michael Reynolds and Erik Parens, Sandra Soo-Jin Lee describes how an archetypal “good biocitizen” has emerged in an age of precision medicine and considers the consequences.

Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population
Christa Lese Martin et al.
Patient participants with records in Geisinger’s integrated EHR-genomic biobank received genomic results of copy number variants associated with neuropsychiatric disorders. Participants with psychiatric symptoms or diagnoses reported personal utility from learning more about their condition’s etiology.

Clinical Ethics in Hereditary Neuromuscular Diseases such as Duchenne Muscular Dystrophy
Takashi Nakajima
Ethical issues of particular concern in hereditary neuromuscular diseases include privacy, genetic discrimination, and ableism regarding patient quality of life and medical futility. Enhancing a patient’s subjective quality of life can be achieved through symptom control techniques and the use of a safety net medical care system with a multidisciplinary team. [Article in Japanese; abstract available in English.]

Patient and Family Social Media Use Surrounding a Novel Treatment for a Rare Genetic Disease: A Qualitative Interview Study
Alexander Iyer et al.
Patients with spinal muscular atrophy and their families used social media to learn more about a new drug, nusinersen (Spinraza), to make informed treatment decisions and advocate for and access treatment, while navigating information trustworthiness and privacy concerns.

Ethical Issues of Genetic Testing towards Hereditary Neurological Disorders
Kaori Muto
Muto discusses historical and current issues in clinical ethics of hereditary neurological disorders, including the “right to (not) know,” secondary findings, disclosure of results to relatives, confidentiality, and pre-implantation genetic testing for monogenic/single gene defects. [Article in Japanese; abstract available in English.]

Impute.me: An Open-Source, Non-Profit Tool for Using Data from Direct-to-Consumer Genetic Testing to Calculate and Interpret Polygenic Risk Scores
Lasse Folkersen et al.
The authors introduce a tool wherein consumers can upload their genetic data to derive polygenic risk scores for a very broad range of health-related traits, which they argue could, in the future, be an overall clinical benefit.

Family Communication Patterns and Challenges of Huntington's Disease Risk, the Decision to Pursue Presymptomatic Testing, and Test Results
Kelsey Stuttgen et al.
This interview study of long-term effects of communicating Huntington disease (HD) results found that sharing results with spouses and children typically had a positive effect on the relationship, while effects of sharing results with extended family members were more likely to be negative when they were in denial, had not pursued testing for themselves, or did not support testing.

Patients' Perspectives on Psychiatric Pharmacogenetic Testing
Ina Liko et al.
Genotyped patients had mixed experiences with psychiatric pharmacogenomic testing, depending on previous perspectives and expectations, test results, and cost. The study was limited by sample homogeneity (all 20 participants were Caucasian).

The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service
Aaron Besterman et al.
Specific training in medical genetics for child and adolescent psychiatry fellows increased genetic testing rates. However, variants of uncertain significance were much more common than those of known risk, limiting utility.

Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects
Kyung-Hee Kim et al.
Missense changes in DNA repair gene Fanconi-Associated Nuclease 1 (FAN1) hasten onset of Huntington disease symptoms. This study provides evidence that the process of somatic CAG repeat expansion is a suitable therapeutic target.

Race Is Real, but It’s Not Genetic
Alan Goodman
Goodman uses the longstanding myth that Black people do not get osteoporosis to illustrate how race is a biological fiction but “real” in its effects on bodies through racism.

eMERGE announcement
National Institutes of Health
The NIH, through the NHGRI, will provide an additional $75 million in funding over five years to the Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network to establish protocols and methodologies for improved genomic risk assessments for diverse populations and integrate their use in clinical care. In just-published research by Christin Hoell et al. from the eMERGE consortium on return of results, 94.5% of 4,664 participants chose to learn all genetic results.

Gene Therapy Trial Halted after Second Patient Death
Megan Brooks
A trial of a gene therapy for X-linked myotubular myopathy has been halted after a second patient died after receiving a high dose of the treatment; both deaths were reportedly from sepsis.

Alzheimer's: New Gene May Drive Earliest Brain Changes
Columbia University
A recent study found that variants of the RBFOX1 gene may contribute to amyloid plaques and Alzheimer’s disease symptoms.

‘It Will Consume Your Life’: 4 Families Take on Rare Diseases
Gina Kolata
Caring for people with and having rare diseases, 95% of which have no known therapies, can consume families. Four families profiled turned to patient advocacy and even lab research to hasten treatments and cures.