Search

Since the start of the Precision Medicine Initiative by the United States of America in 2015, interest in personalized medicine has grown extensively. In short, personalized medicine is a term that describes medical treatment that is tuned to the individual. One possible way to realize personalized medicine is 3D printing. When using materials that can be tuned upon stimulation, 4D printing is established. In recent years, many studies have been exploring a new field that combines 3D and 4D printing with therapeutics. This has resulted in many concepts of pharmaceutical devices and formulations that can be printed and, possibly, tailored to an individual. Moreover, the first 3D printed drug, Spritam®, has already found its way to the clinic. This review gives an overview of various 3D and 4D printing techniques and their applications in the pharmaceutical field as drug delivery systems and personalized medicine., info:eu-repo/semantics/publishedVersion

Last year, there was an increase in the amount of manpower in Malaysia, especially in terms of the numbers of neurosurgeons, cognitive neuroscientists and clinical psychologists. One way to increase the number of cognitive neurotechnologists in the country in 2021 is to allow neuroscientists to register as neurotechnologists with the Malaysian Board of Technologists (MBOT). The Malaysian Brain Mapping project has risen from its humble beginnings as an initiative of the Universiti Sains Malaysia Brain Mapping Group in 2017. There is currently a proposal for its entry into the national arena via the Precision Medicine Initiative with the Academy Science Malaysia, the Ministry of Science, Technology and Innovation, Ministry of Higher Education and Ministry of Health. The current Malaysian Government’s Science, Technology, Innovation and Economy (STIE) plan was launched in 2020, leading to the establishment of neurotechnology as one of 10 STIE drivers.

Aim: To evaluate the clinical benefits of implementing pharmacogenomics testing for Chinese pediatric patients. Materials & methods : Based on the drug–gene interactions involved in the Clinical Pharmacogenetics Implementation Consortium guidelines, whole-genome sequencing data from the Chinese Academy of Sciences Precision Medicine Initiative project and the medication data of pediatric patients from a children's hospital, the prevalence of the Chinese population with actionable pharmacogenomic variants was calculated, the prescribing pattern for pediatric patients was analyzed. Results: 37.0% of the drugs involved in the Clinical Pharmacogenetics Implementation Consortium guidelines were used by Chinese pediatric patients, 8.91% inpatients and 0.89% outpatients received at least one pharmacogenomics medication, 1.24% (4803) inpatients and 0.16% (2940) outpatients were estimated to be at high risk of pharmacogenomic-related adverse therapeutic outcomes. Conclusion: Implementing pharmacogenomics testing can improve therapeutic outcomes for many Chinese pediatric patients.

Background: We evaluated the association between pathogenic mutations and overall survival (OS) in patients with cancer referred to Hellenic Cooperative Oncology Group-affiliated Departments. Patients and methods: Patients referred from 12/1980 to 1/2017 had molecular testing (for research) of archival tumor tissue collected at the time of first diagnosis (non-metastatic, 81%; metastatic, 19%). Tumor-specific gene panels (16-101 genes) were used to identify pathogenic mutations in clinically relevant genes. NGS genotyping was performed at the Laboratory of Molecular Oncology, Aristotle University of Thessaloniki. Annotation of mutations was performed at MD Anderson Cancer Center. Results: We analyzed 3,084 patients (median age, 57 years; men, 22%) with sequencing data. Overall, 1,775 (58% of 3,084) patients had pathogenic mutations. The median follow-up was 7.52 years (95% CI, 7.39-7.61). In patients with non-metastatic tumors, after stratification by tumor type, increasing age, higher grade, and histology other than adenocarcinoma were associated with shorter OS. OS was also shorter in patients with pathogenic TP53 (HR=1.36; p

With the launch of the National Cancer Institute’s Precision Medicine Initiative in 2015, there has been a shift to trial designs that tailor health care solutions to individual patients by using a screening platform and by moving away from the one-trial/one-biomarker-at-a-time approach. To make precision medicine a reality, it is critical to identify and validate potential biomarkers to help select patients who will truly benefit from a targeted therapy. In this article, we discuss five trial designs: enrichment, umbrella, basket, subgroup, and window of opportunity. For each trial design, we describe the design characteristics, use ongoing or completed trials as case studies, provide any recent advances to the trial design, and discuss advantages and disadvantages of each design.

For many years the one-size-fits-all approach has been the only one available to manage patients affected by primary biliary cholangitis. The introduction of obeticholic acid in 2016 as a second-line treatment, together with the creation and validation of several biochemically based scores to stratify the risk of progressive disease, has opened up the need to redefine clinical practice by changing the actual paradigm. The precision medicine initiative is a model of patient-centered health care that aims to improve medicine based on genotypic and molecular characteristics that correlate to specific phenotypic, individual characteristics. In summary, the aim of the precision medicine is to define the right treatment for the right person at the right time. The availability of a second-line disease-modifying drug and new molecules in phase 2 or 3 trials makes this an exciting time for the precision medicine initiative in primary biliary cholangitis. In this review we describe the current risk stratification tools and we track a possible path towards the application of precision medicine in clinical daily life.

With advances in genetic testing and its common usage, the field of precision medicine has exploded in the field of oncology. The National Cancer Institute is uniquely positioned to lead in this area of research through its wide network of investigators, partnerships with pharmaceutical companies in drug development, and laboratory capabilities. It has developed a portfolio of trials as part of a Precision Medicine Initiative, that uses various basket/umbrella designs to increase the understanding of treatment of cancer through genetic selection and targeted therapies. This article describes these trials, ALCHEMIST, LungMAP, NCI/NRG ALK Trial, MPACT, NCI-MATCH, and pediatric MATCH, and their contributions to the area of precision medicine.

Non-communicable diseases (NCDs) kill more than 41 million people every year, accounting for 71% of all deaths globally. The prevalence of NCDs is estimated to be higher than that of infectious diseases in Africa by 2030. Precision medicine may help with early identification of cases, resulting in timely prevention and improvement in the efficacy of treatments. However, Africa has been lagging behind in genetic research, a key component of the precision medicine initiative. A number of genomic research initiatives which could lead to translational genomics are emerging on the African continent which includes the Non-communicable Diseases Genetic Heritage Study (NCDGHS) and the Men of African Descent and Carcinoma of the Prostate (MADCaP) Network. These offer a promise that precision medicine can be applied in African countries. This review evaluates the advances of genetic studies for cancer, hypertension, type 2 diabetes and body mass index (BMI) in Africa.

Since President Obama signed the Precision Medicine Initiative in 2015, endeavors to integrate pharmacogenetics in clinical practice and psychiatric care have been evolving rapidly. The nature of general practice and psychiatric medicine, including psychopharmacotherapy and the long-term care necessary for chronic diseases, renders these fields in desperate need of the implementation of pharmacogenetics. This article presents some of the challenges facing pharmacogenetics implementation in family medicine and psychiatric care. Reputable research websites were used to extract papers, data, and lectures concerning this topic. The results reveal that three main challenges are facing this integration: the evaluation of pharmacogenetic testing in general and psychiatric practice, cost-effectiveness, and regulatory burdens. Although considerable advances are being made to address these issues, it is time to gather these efforts under one umbrella to create guidelines based on previous and upcoming research.

Which signaling pathway and protein to select to mitigate the patient’s expected drug resistance? The number of possibilities facing the physician is massive, and the drug combination should fit the patient status. Here, we briefly review current approaches and data and map an innovative patient-specific strategy to forecast drug resistance targets that centers on parallel (or redundant) proliferation pathways in specialized cells. It considers the availability of each protein in each pathway in the specific cell, its activating mutations, and the chromatin accessibility of its encoding gene. The construction of the resulting Proliferation Pathway Network Atlas will harness the emerging exascale computing and advanced artificial intelligence (AI) methods for therapeutic development. Merging the resulting set of targets, pathways, and proteins, with current strategies will augment the choice for the attending physicians to thwart resistance.

A goal of the Precision Medicine Initiative All of Us Research Program (AoURP) is recruitment of participants who reflect the diversity of the US. Recruitment from among blood bank donors, which may better reflect the demographic makeup of local communities, is one proposed strategy. We evaluated this strategy by analyzing the results of a survey of San Diego Blood Bank donors conducted in November 2015. Whites were more likely than nonwhites to respond to the survey (7.1 percent versus 3.9 percent). However, race was not a significant predictor of interest in participating in precision medicine research. Using census data linked to donors' ZIP codes, we also found that people who indicated interest in research participation were more likely to come from regions with higher educational attainment. Although blood banks represent a viable recruitment strategy for AoURP, our findings indicate that bias toward inclusion of whites and more highly educated people persists.

Precise treatment of a disease, with a concerted analysis at the genomic and phenotypic level, is a paradigm shift from the one-size-fits-all treatment practiced for centuries. As part of the Precision Medicine Initiative, a million cohort samples will be collected for research and development of unique genetic markers in the study of the relationship of genomic markers to cancer. The million cohort samples are only as good as the conditions under which the samples are collected and stored. The purpose of this review is to discuss an economically viable biobanking solution for tissue, blood, and nucleic acid storage for such an endeavor! Tissue biopsy and whole blood are two common types of tissues collected for the Precision Medicine Initiative. Tissue samples can be stored as formalin-fixed paraffin-embedded (FFPE) blocks at ambient for decades, but fresh tissue samples although limited in sample size are better suited for downstream application. Postmortem collection of tissue is a good alternative to fresh tissue samples if the samples can be acquired in a timely manner before cold ischemia sets in. Blood is the preferred tissue sample for the Precision Medicine Initiative as it is easy to collect compared to other tissue types. Energy and space limitations are going to be crucial for storing a million samples for decades. Dry storage at ambient temperature is an alternative to the ultra-low-temperature storage of samples. Dry storage of whole blood samples as dried blood spots (DBS) or of the isolated components such as nucleic acids at ambient is ideal. In this review, we discuss the ambient temperature storage of blood samples and of nucleic acid. The million cohort biobanked blood and tissue samples will be crucial references for decades to come as new discoveries are made and new markers identified. Collection of blood samples at ambient as DBS and storage of the associated nucleic acid at ambient will be the key to the long-term success of biobanking of this large cohort.

Gene detection plays an important role in public health and consumer finances cause its prominent functions in precision medicine, pathogens detection and species identification. What's more, the announcement of Precision Medicine Initiative would strengthen its status further in many aspects. Therefore, rapid and simplified gene detection techniques are in urgent demand to meet the practical use. During the last decades, gene detection techniques have advanced considerably by integrating various strategies such as microassay, nanotechnologies and electrochemical methods. Herein, we summerized the recent innovations of gene detection methods based on the signal read-out modalities, and highlight those techniques with the potentials to realize Point-of-care (POC) tests. Additionally, gene detection principle, amplification strategies and their applications are also discussed.

Purpose Precision oncology develops and implements evidence-based personalized therapies that are based on specific genetic targets within each tumor. However, a major challenge that remains is the provision of a standardized, up-to-date, and evidenced-based precision medicine initiative across a geographic region. Materials and Methods We developed a statewide molecular tumor board that integrates academic and community oncology practices. The Precision Medicine Molecular Tumor Board (PMMTB) has three components: a biweekly Web-based teleconference tumor board meeting provided as a free clinical service, an observational research registry, and a monthly journal club to establish and revise evidence-based guidelines for off-label therapies. The PMMTB allows for flexible and rapid implementation of treatment, uniformity in practice, and the ability to track outcomes. Results We describe the implementation of the PMMTB and its first year of activity. Seventy-seven patient cases were presented, 48 were enrolled in a registry, and 38 had recommendations and clinical follow-up. The 38 subjects had diverse solid tumors (lung, 45%; GI, 21%; breast, 13%; other, 21%). Of these subjects, targeted therapy was recommended for 32 (84%). Clinical trials were identified for 24 subjects (63%), and nontrial targeted medicines for 16 (42%). Nine subjects (28%) received recommended therapy with a response rate of 17% (one of six) and a clinical benefit rate (partial response + stable disease) of 38% (three of eight). Although clinical trials often were identified, patients rarely enrolled. Conclusion The PMMTB provides a model for a regional molecular tumor board with clinical utility. This work highlights the need for outcome registries and improved access to clinical trials to pragmatically implement precision oncology.

During his 2015 State of the Union address, former U.S. President Barack Obama launched the Precision Medicine Initiative, an innovative and ambitious effort to collect genetic and other health data on 1 million individuals nationwide to spur the development of tailored, patient-specific therapies.

The development of human induced pluripotent stem cell (iPSC) technology has revitalized the efforts made in the last decade to exploit the potential of human embryonic stem cells (ESCs) for scientific research. In the field of cardiac arrhythmias, the possibility of generating an unlimited amount of patient-specific cardiomyocyte-like cells (iPSC-CMs) has clear advantages compared with the use of ESC-derived cardiac cells. In particular, with the introduction and implementation of the large-scale precision medicine initiative, we anticipate that the iPSC technology will play an important role in the advancement of cardiovascular research and medicine. This platform is not free from technical limitations that must be carefully taken into account; however, the utility of iPSC-CMs in disease modeling and drug testing studies is hardly questionable. Here, we summarize some of the progresses made in the field of iPSC technology applied to inherited cardiac arrhythmias, with particular emphasis on the use of iPSC-CMs for modelling the long QT syndrome and for the development of personalized drug and molecular therapies. The growing role of iPSC technology in the practice of precision medicine will also be discussed.

The 21st Century Cures Act provides funding for key initiatives relevant to the behavioral and social sciences and includes administrative provisions that facilitate health research and increase the privacy protections of research participants. At about the same time as the passage of the Act, the National Institutes of Health Office of Behavioral and Social Sciences Research released its Strategic Plan 2017-2021, which addresses three scientific priorities: (a) improve the synergy of basic and applied behavioral and social sciences research; (b) enhance and promote the research infrastructure, methods, and measures needed to support a more cumulative and integrated approach to behavioral and social sciences; and (c) facilitate the adoption of behavioral and social sciences research findings in health research and in practice. This commentary describes the implications of the Cures Act on these scientific priorities and on the behavioral and social sciences more broadly.

According to the Precision Medicine Initiative, a long-term research measure involving the National Institutes of Health and other centers, precision medicine is defined as “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.” By contributing to the prevention and treatment of disease and improved health, big data and artificial intelligence play critical roles in precision medicine. The idea of harnessing all available data and techniques can be traced to the Huangdi Neijing, a book about ancient Chinese medicine practices. Currently, we have the tools to collect vast amounts of genomics data along with state-of-the-art data analytics for interpretation. With the availability of new resources and techniques, we are advancing our understanding of genomics and medicine with increasing precision.

Precision medicine as defined by the Precision Medicine Initiative is “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.” The overarching goal of precision medicine is to yield information that helps us move away from an untargeted “average response” treatment approach to a more personalized and selective approach that aims to increase the benefits and reduce harm. In this chapter, we provide a brief overview of the approaches of precision medicine and examples of the current clinical applications and discuss the challenges associated with its implementation.

The National Institutes of Health (NIH) has joined the movement of big data by establishing a new research initiative to collect comprehensive health data from over 1 million U.S. citizens to better understand and address the health of the nation. As part of a focus supporting the Precision Medicine Initiative, the NIH aims to accelerate health and medical science and deliver on the promise for more personalized care and treatment. [ J Contin Educ Nurs. 2019;50(10):442–443.]

e15102 Background: Over the last several years, science has taken strides in how we understand and treat cancer. We have learned that each person’s cancer is unique, in part because it is influenced by a patient’s biological characteristics, environmental exposures, lifestyle and epigenetic influence. There is excitement about the potential of PMI to transform healthcare delivery and improve population health. Targeted therapies developed based on specific mutations can result in improved outcomes and reduced toxicities. Limited knowledge of cancer biology and the genomic underpinnings of cancer in racial and ethnic minorities diminishes the potential of PMI. Previous efforts of obtaining biospecimens from institutional or local biobanks presents a challenge of inadequate representation of racial and ethnic diversity. This can result in exacerbation in the therapies efficaciousness. Methods: Numerous research studies have surfaced indicating that PMI has resulted in widening racial and ethnic health care disparities since state-of-the art diagnostic and treatment options are unequally distributed across the entire cancer population. A literature review highlighted the racial inequalities and disparities. Results: A report examining the racial diversity of samples in TCGA found that whites were overrepresented in the U.S. population while Asian and Hispanic patients were underrepresented at a 5 percent frequency. In the BATTLE study, 82 percent of participants were white, and only 6% were African American (AA). The NCI-MATCH trial preliminary numbers show that AAs accounted for about 10 percent of patients. Therefore, it should not be assumed that the response rates or clinical effectiveness of the therapeutics tested in these trials will generalize to all racial and ethnic groups. The underrepresentation of racial and ethnic minorities in cancer clinical trials and prevention research, along with the documented challenges to enrolling these individuals into studies pose a barrier for the implementation of precision medicine in these populations. Collectively, these challenges can slow the pace of medical innovation, decrease the generalizability of research findings, lead to incorrect interpretations, and limit our full understanding of precision medicine. Conclusions: It is imperative we develop solutions to solve for issues identified related to precision medicine testing and treatment development. We have developed a framework to address disparities in PMI through community-based initiatives. A two-step solution could be considered to address this unmet need. Through the development of a registry and biospecimen banking as well as just in time trials that include pharmacogenomics, we can follow the patient journey to identify unique characteristics by race and/or socioeconomic status to begin solving for the disparities across the population.

Background: Hereditary cancer panels (HCPs), testing for multiple genes and syndromes, are rapidly transforming cancer risk assessment but are controversial and lack formal insurance coverage. We aimed to identify payers' perspectives on barriers to HCP coverage and opportunities to address them. Comprehensive cancer risk assessment is highly relevant to the Precision Medicine Initiative (PMI), and payers' considerations could inform PMI's efforts. We describe our findings and discuss them in the context of PMI priorities. Methods: We conducted semi-structured interviews with 11 major US payers, covering >160 million lives. We used the framework approach of qualitative research to design, conduct, and analyze interviews, and used simple frequencies to further describe findings. Results: Barriers to HCP coverage included poor fit with coverage frameworks (100%); insufficient evidence (100%); departure from pedigree/family history-based testing toward genetic screening (91%); lacking rigor in the HCP hybrid research/clinical setting (82%); and patient transparency and involvement concerns (82%). Addressing barriers requires refining HCP-indicated populations (82%); developing evidence of actionability (82%) and pathogenicity/penetrance (64%); creating infrastructure and standards for informing and recontacting patients (45%); separating research from clinical use in the hybrid clinical-research setting (44%); and adjusting coverage frameworks (18%). Conclusions: Leveraging opportunities suggested by payers to address HCP coverage barriers is essential to ensure patients' access to evolving HCPs. Our findings inform 3 areas of the PMI: addressing insurance coverage to secure access to future PMI discoveries; incorporating payers' evidentiary requirements into PMI's research agenda; and leveraging payers' recommendations and experience to keep patients informed and involved.

Academic pathology departments will be dramatically affected by proposed United States federal government regulatory initiatives. Pathology research will be substantially altered if proposed changes to the Common Rule (Code of Federal Regulations: Protection of Human Subjects title 45 CFR 46) and regulations governing the return of individual research results are approved and finalized, even more so now that the Precision Medicine initiative has been launched. Together, these changes are disruptive influences on academic pathology research as we know it, straining limited resources and compromising advances in diagnostic and academic pathology. Academic research pathologists will be challenged over the coming years and must demonstrate leadership to ensure the continued availability of and the ethical use of research pathology specimens.

Privacy is an important concern for the Precision Medicine Initiative (PMI) because success of this initiative will require the public to be willing to participate by contributing large amounts of genetic/genomic information and sensor data. This sensitive personal information is intended to be used only for specified research purposes. Public willingness to participate will depend on the public’s level of trust that their information will be protected and kept private. Medical devices may constantly provide information. Therefore, assuring privacy for device-generated information may be essential for broad participation in the PMI. Privacy standards for devices should be an important early step in the development of the PMI.

Medical therapy is no longer a one-size-fits-all solution to health care. Personalized care–precision medicine, tailored to each individual, is on the horizon if not already here. The National Institutes of Health and several other government agencies are supporting research to produce new knowledge that will more effectively treat disease and prolong health. The hospital librarian needs to be aware of the multiple resources available to support the Precision Medicine Initiative and be ready to contribute to improving 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.

Conventionally, biobanks supporting clinical research studies have preserved serum, plasma, urine, saliva, a variety of tissue types, and stool. With the emergence of increasingly sophisticated technologies for analyzing single cells, there is growing interest in preserving viable blood cells for future functional studies. The new All of Us Research Program (formerly the Precision Medicine Initiative Cohort Program) biobank plans to house samples from a million or more individuals as part of a cohort with rich phenotypic data and longitudinal follow-up ( www.nih.gov/research-training/allofus-research-program ). Storage of viable cells for future single-cell analysis offers the promise of new biology, discovery of novel biomarkers, and advances toward the goal of precision medicine. A workshop was held in the summer of 2016 to evaluate the case for preservation of viable mononuclear blood cells and its feasibility within the collection plan for the biobank.

Interest in precision medicine in the medical field is increasing through the United States ‘Precision Medicine Initiative’ announced in 2015. Accordingly, a method for secure and efficient provide of precision medicine services has been continuously studied. Recently, a survey by consulting company shows the importance of verification the integrity of data in decision making is increasing in the analysis of sensitive data of big data size that a key component of precision medicine. Therefore, in this paper, we study integrity validation method of sensitive data by applying signature technology called KSI in precision medicine system.

Errors in the preanalytical phase, spanning activities from ordering a test to presenting a sample for analysis, were reported to constitute the majority of clinical lab errors; however, the issue is still undermined, especially, in clinical trials. Patient preparation does not only include deprivation of food or, even, alcohol intake for a certain period of time, but noncaloric beverages, smoking, and exercise can make big differences in lab results. Type of blood collection tube, level of filling, way and magnitude of mixing, size of the needle, amount of pressure, and length of time for tourniquet application, capillary versus venous blood collected by a syringe or from intravenous line, plasma versus serum all can be significant preanalytical variables. Tumor acquisition with the length of warm and cold ischemia, preservation and embedding into paraffin can alter tissue quality and biomarker results remarkably. Unless properly controlled, specimen processing, handling, storage, and transportation can induce a lot of errors. Unfortunately, these variables can be exaggerated in clinical trials where samples are, mostly, dealt with busy staff with limited or no lab experience.

While reports praised the significant improvement in clinical lab analyses due to automation and implementation of internal and external quality tools, lack of traceability and the concept of gold standard is making clinical lab quality as a moving object with no hope to get better but, instead, worsen by time. Revealing real-life data, this chapter shows unbelievable discrepancies in biomarker results with its imminent disastrous impact on patients and drug discovery. Results from a single sample can be different by as much as more than 100-fold if analyzed by different labs or even by a single lab using different instruments. Just changing a lot of reagents can cause difference in results from a single sample that conceals a medical decision cutoff. These issues are not just in novel high complex molecular diagnostics but in grandfather, believed standardized, short list of assays such as lactate dehydrogenase, low-density lipoprotein cholesterol, and international normalized ratio.

The Precision Medicine Initiative (PMI) aims to change the way diseases are diagnosed and treated by taking into account a patient's genome, lifestyle, and environment. This type of research also uncovers potential biomarkers that can lead to the development of novel targeted therapies. Next-generation sequencing (NGS) is a new technology that facilitates collection of this genetic information by processing large amounts of DNA in an efficient and cost-effective way. NGS is particularly useful in oncology and has already begun to transform cancer management.

In early 2015, the U.S. proposed the Precision Medicine Initiative (PMI). Almost at the same time, the Chinese government began increasing investment into the precision medicine field, which was officially included in China’s 13th Five-Year Plan at the end of 2016. Precision medicine soon evolved from being an academic concept into an economic buzzword attracting global attention. Estimates predict that from 2015 to 2022, the Compound Annual Growth Rate (CAGR) for the global precision medicine market will be 12.60%, reaching over USD 88 billion by 2022. The precision medicine market is now more promising than ever.

The development of rapid parallel sequencing in the last 20 years has begun a revolution in the field of genetics that is changing nearly all disciplines within biology and medicine. Genomic sequencing has become crucial to the diagnosis and clinical management of patients with constitutional diseases and cancer and has quickly become an integral part of the new era of personalized and precision medicine. The precision medicine initiative, released by the NIH in 2015, has catapulted genomic technologies to the forefront of the practice of medicine and biomedical research.This chapter focuses on the core technologies driving the genomic revolution from first generation (Sanger) sequencing to microarray-based technologies, to second, commonly referred to as next-generation sequencing (NGS) methods, and finally to the emerging third generation technologies capable of performing single-molecule and long-read sequencing. The goal of the chapter is to provide a broad overview of these methods of DNA analysis and highlight their strengths and weaknesses. Furthermore, with a knowledge of the different mutation types, we seek to provide the basis for understanding how these technologies work, and can be adopted, to explore other type of nucleic acids and epigenetic changes.

The 21st Century Cures Act, approved in the USA in December 2016, has encouraged the establishment of the national Precision Medicine Initiative and the augmentation of efforts to address disease prevention, diagnosis and treatment on the basis of a molecular understanding of disease. The Act adopts into law the formal process, developed by the FDA, of qualification of drug development tools, including biomarkers and clinical outcome assessments, to increase the efficiency of clinical trials and encourage an era of molecular medicine. The FDA and European Medicines Agency (EMA) have developed similar processes for the qualification of biomarkers intended for use as companion diagnostics or for development and regulatory approval of a drug or therapeutic. Biomarkers that are used exclusively for the diagnosis, monitoring or stratification of patients in clinical trials are not subject to regulatory approval, although their qualification can facilitate the conduct of a trial. In this Review, the salient features of biomarker discovery, analytical validation, clinical qualification and utilization are described in order to provide an understanding of the process of biomarker development and, through this understanding, convey an appreciation of their potential advantages and limitations.

“Tonight, I’m launching a new Precision Medicine Initiative 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.” - President Barack Obama, State of the Union Address, January 20, 2015. This new initiation of precision medicine has generated excitement and promises of improved health outcomes. The challenge is to use individual-specific information to provide optimal, cost-effective customized care. This entails a comprehensive knowledge of individual behaviors, diet and exposures as well as a complete past medical history of an individual and detailed (preferably quantitative) descriptions of clinical findings and measurements. The molecular genetics of an individual as well as that of diseased tissues such as cancers are an integral part of this program. Molecular diagnostics are especially important for individuals who are experiencing disorders that are clearly traceab...

In January 2015, President Barack Obama announced the formation of the Precision Medicine Initiative. The initiative plans to assemble a massive cohort of over one million US residents, followed longitudinally, using mobile and pervasive technologies as one data gathering methodology. Establishing such an unusual research cohort creates new opportunities and challenges in mobile and pervasive health research.