Responsibility in the age of precision genomics

The value of genetics in medicine has been steadily developing with our increasing knowledge of the human genome. Genetic testing to determine disease risk or potential drug effects is set to become more commonplace. With this comes increasing concern about access to genetic information, and the potential for discriminatory usage of such information. At present, the scope and predictability of genetic testing and the conclusions that may be drawn fairly from genetic information are limited. Nonetheless, public concerns about discrimination based on the possession of a genetic trait or condition are well documented. The prospect that such information might be used in decisions regarding employment or insurability has caused anxiety and prompted legislation largely dedicated to the use of information about one's genotype rather than medical information in general. These laws emphasize genetic information as distinct from other medical information and attempt to prioritize interests in genetic information. As the distinction between genetic and medical information becomes untenable, those who would regulate the use of genotypic information will find this approach to policy problematic.In considering the limits of legislation as an effective tool of regulating genetic discrimination, several conclusions can be drawn: firstly, despite the promise of genomic medicine, current knowledge is insufficient to justify the use or application of certain genetic information in nonmedical contexts; secondly, public resistance to genomic medicine that is based on fear of genetic discrimination poses a danger that justifies a policy response; and thirdly, such a response may be purely symbolic and not entirely effective, provided that the policy establishes a consensus regarding the applicability of genetic information in nonmedical contexts.

The rising demand to use genetic data for research goes hand in hand with an increased awareness of privacy issues related to its use. Using human genetic data in a legally compliant way requires an examination of the legal basis as well as an assessment of potential disclosure risks. Focusing on the relevant legal framework in the European Union, we discuss open questions and uncertainties around the handling of genetic data in research, which can result in the introduction of unnecessary hurdles for data sharing. First, we discuss defining features and relative disclosure risks of some DNA-related biomarkers, distinguishing between the risk for disclosure of (1) the identity of an individual, (2) information about an individual's health and behavior, including previously unknown phenotypes, and (3) information about an individual's blood relatives. Second, we discuss the European legal framework applicable to the use of DNA-related biomarkers in research, the implications of including both inherited and acquired traits in the legal definition, as well as the issue of “genetic exceptionalism”—the notion that genetic information has inherent characteristics that require different considerations than other health and medical information. Finally, by mapping the legal to specific technical definitions, we draw some initial conclusions concerning how sensitive different types of “genetic data” may actually be. We argue that whole genome sequences may justifiably be considered “exceptional” and require special protection, whereas other genetic data that do not fulfill the same criteria should be treated in a similar manner to other clinical data. This kind of differentiation should be reflected by the law and/or other governance frameworks as well as agreed Codes of Conduct when using the term “genetic data.”

In the last few decades, issues related to the legal regulation of genetic research and the legal regime of genetic information derived from it have become particularly relevant both at the international level and at the level of individual countries. However, Russia has only recently come to realize the need for legislative regulation of the relevant relations. At the same time, a distinctive feature of such regulation is the emphasis on public-legal aspects, and civil-legal aspects have been left without due attention.The distinction between genetic information and genetic data is essential for the determination of the civil law regime of genetic information. Genetic information is personified genetic (genomic) information (information), because it has an individual, personal character as relating directly or indirectly to a particular or identifiable person. Genetic data is non-personalized (anonymized) genetic data, which are characterized by a formalized species, often contained in the information system and in this regard — systematized. Genetic information is an element of such an intangible good as the secret of private life, genetic data are, as a rule, an element of such a result of intellectual activity as a database. In addition, it is concluded that there is no doctrinal or legislative basis for the recognition of genetic information as an independent object of civil rights. The necessity of additional legislative regulation of activity of the biobanks carrying out storage of biomaterials, respectively, genetic data is proved. Genetic information contained in such biobanks should be subject to the legal regime of privacy.

Copyright: © 2015 Zhang XD. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. On January 20, 2015, US President Obama announced at his 2015 State of the Union Address that he was launching a new precision medicine initiative [1]. On January 30, the Obama administration unveiled details about the Precision Medicine Initiative. Launched with a $215 million investment in the US President’s 2016 budget, the Precision Medicine Initiative will pioneer a new model of patientpowered research that ultimately help deliver the right treatment to the right patient at the right time [2]. On March 11, 2015, it had been reported that China is planning to invest 60 billion Yuan (nearly $10 billion) in precision medicine (20 billion from the Central Government and the remaining 40 billion from local governments and companies) before 2030 [3].

The Parkinson's Progression Marker Initiative (PPMI), sponsored by The Michael J. Fox Foundation for Parkinson's Research, is designed to develop disease biomarkers to accelerate Parkinson's disease (PD) therapeutics. During the past 15 years PPMI has acquired comprehensive clinical, imaging, biomarker and genetic data on thousands of participants that has guided clinical therapeutic studies for PD and related synucleinopathies. The study has established standardized strategies for acquisition and analysis of data and set a standard for data sharing and open-source publication. PPMI has by design consistently evolved to incorporate new knowledge and science. A key example is that PPMI data has enabled the transition from clinical to biologic definition of synucleinopathy. The study continues to expand our understanding of disease biology particularly in precise PD subsets in both in-clinic and a rapidly expanding remote participant cohort, using myPPMI, an online portal. This special issue reviews PPMI's continuing contribution to early detection, understanding disease biologic and staging, and innovative therapeutic strategies in PD and related synucleinopathies. ANN NEUROL 2026.

Cet article decrit, du point de vue d'un clinicien generaliste, une solution pour l'implementation de dossiers concernant les patients en toute securite, ainsi que les strategies mises en place pour cette implementation. Cet article souligne donc l'importance de la securite pour la confidentialite de ces dossiers, mais aussi la difficulte de mettre en place un systeme de protection de l'information sur

Background and Objective: African-Americans in the US have the highest cancer mortality rates. Recognizing the need to address this disparity via technological and scientific innovation, In January 2015, President Obama introduced the Precision Medicine Initiative in his State of the Union Address. Allocating $215 million dollars in the 2016 budget, precision medicine should address these cancer health disparities. Yet, little is known about self-identified African-Americans/Blacks' knowledge of precision medicine. Strategy: The objective is to understand Floridan African American men and women's knowledge of Precision Medicine and ability to successfully explain underlying concepts relative to the Precision Medicine Initiative. Using a cross-sectional design, Florida Blacks' were recruited at health forums, barbershops, salons, and churches in the state of Florida. Participants completed a self-administered survey that asked about their demographics, knowledge of precision medicine and ability to explain PMI concepts. Participants who completed the study were given either a $5 gift card of a shirt. Results: A total of 132 participants completed the self-administered survey. Majority of the participants were female (64%) and Native U.S Blacks (85% African American of African descent). 62% were college trained and 71% were currently employed. 7% of participants had been diagnosed with cancer before and roughly 62% of them had private insurance. Well over 70% of participants have never heard of the concepts precision medicine, and pharmacogenomics. Over 50% of participants had never heard of personalized medicine, individualized medicine, and genomic sequencing. Participants were more familiar with the terms clinical trials, abnormal genes, hereditary risk, and genetic abnormality. They were also able to successfully describe the four terms that they were more familiar with. 73% participants stated that they did not know whether or not the use of precision medicine would improve cancer care and treatment. Conclusion: The findings suggest that majority of participants are unaware of precision medicine. There was little to no understanding about the role of precision medicine in cancer care and treatment. There is a great need to educate minority populations about the Precision Medicine Initiative and identify facilitators and barriers to engagement in order to address health disparities effectively and efficiently. Citation Format: Christina L. Redwine, Folakemi Odedina, Debra Lyon, Jennifer Nguyen. Exploration of Florida blacks' understanding of precision medicine for cancer care and treatment. [abstract]. In: Proceedings of the Eighth AACR Conference on The Science of Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; Nov 13-16, 2015; Atlanta, GA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2016;25(3 Suppl):Abstract nr A18.

U.S. President Obama announced a new era of precision medicine in the Precision Medicine Initiative (PMI). This initiative aims to accelerate the progress of personalized medicine in light of individual requirements for prevention and treatment in order to improve the state of individual and public health. The recent and dramatic development of large-scale biologic databases (such as the human genome sequence), powerful methods for characterizing patients (such as genomics, microbiome, diverse biomarkers, and even pharmacogenomics), and computational tools for analyzing big data are maximizing the potential benefits of precision medicine. Nursing science should follow and keep pace with this trend in order to develop empirical knowledge and expertise in the area of personalized nursing care. Nursing scientists must encourage, examine, and put into practice innovative research on precision nursing in order to provide evidence-based guidance to clinical practice. The applications in personalized precision nursing care include: explanations of personalized information such as the results of genetic testing; patient advocacy and support; anticipation of results and treatment; ongoing chronic monitoring; and support for shared decision-making throughout the disease trajectory. Further, attention must focus on the family and the ethical implications of taking a personalized approach to care. Nurses will need to embrace the paradigm shift to precision nursing and work collaboratively across disciplines to provide the optimal personalized care to patients. If realized, the full potential of precision nursing will provide the best chance for good health for all.

Since the late 1980s, the human genetics and genomics research community has been promising to usher in a "new paradigm for health care"-one that uses molecular profiling to identify human genetic variants implicated in multifactorial health risks. After the completion of the Human Genome Project in 2003, a wide range of stakeholders became committed to this "paradigm shift," creating a confluence of investment, advocacy, and enthusiasm that bears all the marks of a "scientific/intellectual social movement" within biomedicine. Proponents of this movement usually offer four ways in which their approach to medical diagnosis and health care improves upon current practices, arguing that it is more "personalized," "predictive," "preventive," and "participatory" than the medical status quo. Initially, it was personalization that seemed to best sum up the movement's appeal. By 2012, however, powerful opinion leaders were abandoning "personalized medicine" in favor of a new label: "precision medicine." The new label received a decisive seal of approval when, in January 2015, President Obama unveiled plans for a national "precision medicine initiative" to promote the development and use of genomic tools in health care.

In his January 2015 State of the Union address, President Barack Obama announced a new Precision Medicine Initiative (PMI) to personalize approaches toward improving health and treating disease (www.whitehouse.gov/precision-medicine). He stated that the goal of such an initiative was “to bring us closer to curing diseases like cancer and diabetes, and to give all of us access to the personalized information we need to keep ourselves and our families healthier.” Since that time, the National Institutes of Health (NIH) has taken a leadership role in implementing the President’s vision related to biomedical research (www.nih.gov/precisionmedicine). Here, we discuss the NIH component of the PMI, related ongoing diabetes research, and near-term research that could position the diabetes field to take full advantage of the opportunities that stem from the PMI.

U.S. Regulatory Challenges for Gene Editing

BackgroundAs a consequence of precision medicine initiatives, genomic technologies have rapidly spread around the world, raising questions about genetic privacy and the ethics of data sharing. Previous scholarship in bioethics and science and technology studies has made clear that different nations have varying expectations about trust, transparency, and public reason in relation to emerging technologies and their governance. The key aims of this article are to assess genetic literacy, perceptions of genetic testing, privacy concerns, and governing norms amongst the Singapore population by collecting surveys.MethodsThis study investigated genetic literacy and broad public attitudes toward genetic tests in Singapore with an online public survey (n = 560). To assess potential changes in attitudes following receipt of results from a genetic test, we also surveyed undergraduate students who underwent a genetic screen as part of a university class before and after they received their test results (n = 25).ResultsPublic participants showed broad support for the use of genetic tests; scored an average of 48.9% in genetic literacy; and expressed privacy concerns over data sharing and a desire for control over their genetic data. After taking a genetic test and receiving genetic test results, students reported less fear of genetic tests while other attitudes did not change significantly.ConclusionThese findings highlight the potential of genetic education and active engagement with genetic testing to increase support and participation in genomic projects, PM, and biobanking initiatives; and they suggest that data privacy protections could potentially reduce discrimination by giving participants control over who can access their data. More specifically, these findings and the dataset we provide may be helpful in formulating culturally sensitive education programs and regulations concerning genomic technologies and data privacy.

Questions regarding insurance companies' access to and use of genetic test results and genetic information have been raised since the advent of the Human Genome Project. The ability to place applicants of similar risks in groups, a process known as underwriting, is critical to the availability and affordability of individually underwritten life, disability income, and long-term care insurance. This paper focuses on how life insurance companies use medical information and particularly genetic test results and other genetic information in the risk assessment process. Issues and concerns raised about differences between routine medical information and genetic information are addressed and policies with regard to privacy and confidentiality are presented.

The increasing understanding of the genome is recognised as being one of the main determinants of future improvement in healthcare. The availability of genetic data from a large number of individuals increases the ability to investigate questions across many rare and common diseases and in different populations, and also provides more information for understanding clinical care outcomes for an individual. A number of large scale genome sequencing initiatives have been launched in the last few years to try and capitalise on this potential. Within Europe, the UK has led the way with the 100,000 Genomes Project. This project looks at the genome sequences of patients with rare diseases or cancer. More recently France announced plans to invest EUR 670 million in a genomics and personalised medicine programme. In the US, the Precision Medicine Initiative aims at large-scale research by gathering one million or more volunteers to extend precision medicine to all diseases. Meanwhile, China has announced plans to invest nearly USD 10 billion in its own precision medicine initiative. These projects demonstrate the commitment at a national level and raise the question “What benefits would be realised by undertaking a million genome initiative in a coordinated effort across European countries?” A coordinated, pan-European MEGA project would garner crucial genetic information that could have an immeasurable benefit when it comes to the health of current and future EU citizens.

These days, many are unaware that they are carrying around powerful health monitoring devices in their pockets. Some of the clinical aspects that are nowadays recorded by contemporary cellphones and wearable devices are heartbeat rate, level of blood sugar, sleep patterns, and early disease indicators. This is a big metamorphosis compared to the conventional clinical process, which prescribes medications based on specific symptoms being exhibited by patients. Due to these new-age tools, patients and clinicians can address potential issues while they are still treatable and affordable because people can receive advanced medical monitoring without having to pay exorbitant fees for expert appointments or drive long distances, and communities with limited access to healthcare gain the most. Health risk patterns that could go unnoticed during quick clinical visits are found using machine learning algorithms. This is especially useful in overcrowded healthcare environments when patient interaction time is limited. Machine learning algorithms identify health risk patterns that may escape detection during brief clinical encounters, particularly valuable in overburdened healthcare settings where patient interaction time remains limited. Privacy protection remains challenging since medical information is extremely sensitive - genetic data could affect insurance rates, while mental health records might impact employment opportunities. Current systems often discriminate against minority patients because they learned from biased historical medical records that reflect generations of unequal treatment. International privacy laws create additional complications since American regulations conflict with European rules, while Asian countries develop their own conflicting requirements. Establishing patient trust via open data usage guidelines, getting rid of algorithmic bias, and creating user interfaces that are accessible to people with different levels of technological proficiency are all necessary for successful implementation. Mortality from metabolic diseases, cardiovascular disease, and chronic ailments that worsen progressively over time could be greatly decreased with mobile health monitoring.