The Interface of Therapeutics and Genomics in Cardiovascular Medicine.

Pharmacogenomics has a burgeoning role in cardiovascular medicine, from warfarin dosing to antiplatelet choice, with recent developments in sequencing bringing the promise of personalised medicine ever closer to the bedside. Further scientific evidence, real-world clinical trials, and economic modelling are needed to fully realise this potential. Additionally, tools such as polygenic risk scores, and results from Mendelian randomisation analyses, are only in the early stages of clinical translation and merit further investigation.

Analysis of laboratory reporting practices using a quality assessment of a virtual patient.

Purpose: Existing research suggests that while some laboratories report variants of uncertain significance, unsolicited findings (UF), and/or secondary findings (SF) when performing exome sequencing, others do not.

Methods: To investigate reporting differences, we created virtual patient-parent trio data by merging variants from patients into "normal" exomes. We invited laboratories worldwide to analyze the data along with patient phenotype information (developmental delay, dysmorphic features, and cardiac hypertrophy).

Old Challenges or New Issues? Genetic Health Professionals' Experiences Obtaining Informed Consent in Diagnostic Genomic Sequencing.

Background: While integrating genomic sequencing into clinical care carries clear medical benefits, it also raises difficult ethical questions. Compared to traditional sequencing technologies, genomic sequencing and analysis is more likely to identify unsolicited findings (UF) and variants that cannot be classified as benign or disease-causing (variants of uncertain significance; VUS). UF and VUS pose new challenges for genetic health professionals (GHPs) who are obtaining informed consent for genomic sequencing from patients.

Genetic health professionals' experiences with initiating reanalysis of genomic sequence data.

Despite the increased diagnostic yield associated with genomic sequencing (GS), a sizable proportion of patients do not receive a genetic diagnosis at the time of the initial GS analysis. Systematic data reanalysis leads to considerable increases in genetic diagnosis rates yet is time intensive and leads to questions of feasibility. Few policies address whether laboratories have a duty to reanalyse and it is unclear how this impacts clinical practice.

Genetic health professionals' experiences returning results from diagnostic genomic sequencing to patients.

Despite widespread use of genomic sequencing (GS) in clinical care, there has been little exploration of actual experiences of genetic health professionals (GHPs) using GS in clinical practice worldwide. To address this, semi-structured interviews were conducted with 31 clinical geneticists and genetic counselors across Europe, Australia, and Canada to explore their experiences with returning results from GS to patients. GHPs remarked that patients' reactions to receiving causative results vary; some patients are relieved or appreciative at identification of a genetic cause, while others express frustration that finding an answer does not lead to a treatment.

DNA Data Marketplace: An Analysis of the Ethical Concerns Regarding the Participation of the Individuals.

Personal genomic data and the related health data are valuable resources for both public-funded research, and for-profit entities in development of new drugs, therapies, and diagnostic tests. In order to access to large datasets, pharmaceutical and biotech companies have developed partnerships with public and private entities such as direct-to-consumer genetic testing companies to buy genomic and health related databases collected from research participants and customers. Although individuals mainly support data sharing for research purposes, the for-profit nature of such data sharing raises some questions regarding the rights of the data subjects and fairness in sharing benefits.

Professionalism in Science: Competence, Autonomy, and Service.

Some of the most significant policy responses to cases of fraudulent and questionable conduct by scientists have been to strengthen professionalism among scientists, whether by codes of conduct, integrity boards, or mandatory research integrity training programs. Yet there has been little systematic discussion about what professionalism in scientific research should mean. In this paper I draw on the sociology of the professions and on data comparing codes of conduct in science to those in the professions, in order to examine what precisely the model of professionalism implies for scientific research.

Exploration of genetic health professional - laboratory specialist interactions in diagnostic genomic sequencing.

Like any new technology, rapid integration of genomic sequencing (GS) into the clinical setting can pose challenges for genetic health professionals (GHPs) using it to diagnose patients. We conducted semi-structured interviews with 31 clinical geneticists and genetic counsellors across Europe, Australia and Canada to gain a better understanding of the issues they were experiencing when requesting GS and receiving reports from laboratories. There was a spectrum of interactions between genetic health professionals and laboratories.

Transparency and objectivity in governance of clinical trials data sharing: Current practices and approaches.

Sharing metadata, individual participant data and summary data, as a complement to results dissemination and trial registration requirements, is perceived to be advantageous by enabling faster and more accurate meta-analyses and reducing the need for additional trials. To date, various models of data access have been utilized in order to manage clinical trials data sharing and access in line with the rights and interests of sponsors, researchers and patients involved in clinical trials. In order to ensure responsible data sharing, the data access review process should be developed in a way that ensures fairness, transparency and objectivity.

Physician View and Experience of the Diagnosis of Autism Spectrum Disorder in Young Children.

Clinicians working with children with autism spectrum disorder (ASD) occupy an important position between parents and the wide-ranging research findings. However, it is not widely known how clinicians view and experience ASD in children, even though their perspective has been shown to significantly influence their work. Sixteen physicians working with preschool children without a diagnosis of (intellectual or other) disability with a (presumed) diagnosis of ASD participated in a semistructured interview.

Re-identifiability of genomic data and the GDPR: Assessing the re-identifiability of genomic data in light of the EU General Data Protection Regulation.

The EU Data Protection Regulation has wide‐ranging implications for research based on anonymized personal genomic and genetic data given the realistic risk of re‐identification. [Image: see text]

What do we owe the newly dead? An ethical analysis of findings from Japan's corpse hotels workers.

While people are still alive, we owe them respect. Yet what, if anything, do we owe the newly dead? This question is an urgent practical concern for aged societies, because older people die at higher rates than any other age group. One novel way in which Japan, the frontrunner of aged societies, meets its need to accommodate high numbers of newly dead is itai hoteru or corpse hotels.

Blockchain-based platforms for genomic data sharing: a de-centralized approach in response to the governance problems?

Blockchain-based platforms are emerging to provide solutions for technical and governance challenges associated with genomic data sharing. Providing capabilities for distributed data stewardship and participatory access control along with effective ways for enforcement of the data access agreements and data ownership are among the major promises of these platforms.

Attitudes of publics who are unwilling to donate DNA data for research.

With the use of genetic technology, researchers have the potential to inform medical diagnoses and treatment in actionable ways. Accurate variant interpretation is a necessary condition for the utility of genetic technology to unfold. This relies on the ability to access large genomic datasets so that comparisons can be made between variants of interest.

Implications of an Autism Spectrum Disorder Diagnosis: An Interview Study of How Physicians Experience the Diagnosis in a Young Child.

Clinicians are significant translators and interpreters towards parents of the abundant literature on autism spectrum disorder (ASD). However, how clinicians experience and view ASD and an ASD diagnosis is not well known. Sixteen physicians working with young children with a (presumed) diagnosis of ASD participated in a semi-structured interview.

Variant data sharing by clinical laboratories through public databases: consent, privacy and further contact for research policies.

Access to detailed variant data is key to inform and verify the interpretation of genomic data. Clinical laboratories can play a significant role in sharing patients' data through public variant databases. To facilitate data sharing, various public databases, such as ClinVar and DECIPHER have been established, which accept data submission from laboratories, clinicians, researchers, and patients.

Registered access: authorizing data access.

The Global Alliance for Genomics and Health (GA4GH) proposes a data access policy model-"registered access"-to increase and improve access to data requiring an agreement to basic terms and conditions, such as the use of DNA sequence and health data in research. A registered access policy would enable a range of categories of users to gain access, starting with researchers and clinical care professionals. It would also facilitate general use and reuse of data but within the bounds of consent restrictions and other ethical obligations.

Correction to: Predictive Psychiatric Genetic Testing in Minors: An Exploration of the Non-Medical Benefits.

The article [Title], written by [AuthorNames], was originally published electronically on the publisher's internet portal (currently SpringerLink) on [date of OnlineFirst publication] without open access.