Benefits of the incorporation of genomic medicine in clinical practice

The 21st century has been revolutionary for the field of clinical genomics, with major advancements and breakthroughs over the years. It is now considered an instrumental tool in clinical and preventive medicine and has been used on a day-to-day basis to complement current clinical practice. However, with advancements in genomics comes greater bioethical concerns, which becomes increasingly complex with more cutting-edge technology. Some of the major ethical concerns include obtaining informed consent, possibility for genetic enhancements and eugenics, genomic equity and potential discrimination and cloning. It is imperative that we appreciate the benefits of genomic medicine in complementing traditional practices, identify and address the ethical concerns with relation to the practice of genomic medicine, and to ensure a common goal of improving human lives. With these in mind, the practice of genomics can have maximum impact in the collective health of the population, with greater benefit to all.

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eMED-DNA: An in silico operating system for clinical medical data storage within the human genome

10.1101/814830 ◽

2019 ◽

Author(s):

Md. Jakaria ◽

Kowshika Sarker ◽

Mostofa Rafid Uddin ◽

Md. Mohaiminul Islam ◽

Trisha Das ◽

...

Keyword(s):

Operating System ◽

Clinical Practice ◽

Data Storage ◽

Real World ◽

In Silico ◽

Clinical Medicine ◽

Genomic Medicine ◽

Integrative System ◽

A Genome ◽

Storage Technologies

AbstractThe propitious developments in molecular biology and next generation sequencing have enabled the possibility for DNA storage technologies. However, the full application and power of our genomic revolution have not been fully utilized in clinical medicine given a lack of transition from research to real world clinical practice. This has identified an increasing need for an operating system which allows for the transition from research to clinical use. We present eMED-DNA, an in silico operating system for archiving and managing all forms of electronic health records (EHRs) within one’s own copy of the sequenced genome to aid in the application and integration of genomic medicine within real world clinical practice. We incorporated an efficient and sophisticated in-DNA file management system for the lossless management of EHRs within a genome. This represents the first in silico integrative system which would bring closer the utopian ideal for integrating genotypic data with phenotypic clinical data for future medical practice.

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Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2020 for the Clinical Practice of Hereditary Colorectal Cancer

International Journal of Clinical Oncology ◽

10.1007/s10147-021-01881-4 ◽

2021 ◽

Author(s):

Naohiro Tomita ◽

Hideyuki Ishida ◽

Kohji Tanakaya ◽

Tatsuro Yamaguchi ◽

Kensuke Kumamoto ◽

...

Keyword(s):

Colorectal Cancer ◽

Clinical Practice ◽

Japanese Society ◽

Genomic Medicine ◽

Hereditary Colorectal Cancer ◽

Sporadic Colorectal Cancer ◽

Cancer Management ◽

Gene Panel Testing ◽

New Findings ◽

Colon And Rectum

AbstractHereditary colorectal cancer (HCRC) accounts for < 5% of all colorectal cancer cases. Some of the unique characteristics commonly encountered in HCRC cases include early age of onset, synchronous/metachronous cancer occurrence, and multiple cancers in other organs. These characteristics necessitate different management approaches, including diagnosis, treatment or surveillance, from sporadic colorectal cancer management. There are two representative HCRC, named familial adenomatous polyposis and Lynch syndrome. Other than these two HCRC syndromes, related disorders have also been reported. Several guidelines for hereditary disorders have already been published worldwide. In Japan, the first guideline for HCRC was prepared by the Japanese Society for Cancer of the Colon and Rectum (JSCCR), published in 2012 and revised in 2016. This revised version of the guideline was immediately translated into English and published in 2017. Since then, several new findings and novel disease concepts related to HCRC have been discovered. The currently diagnosed HCRC rate in daily clinical practice is relatively low; however, this is predicted to increase in the era of cancer genomic medicine, with the advancement of cancer multi-gene panel testing or whole genome testing, among others. Under these circumstances, the JSCCR guidelines 2020 for HCRC were prepared by consensus among members of the JSCCR HCRC Guideline Committee, based on a careful review of the evidence retrieved from literature searches, and considering the medical health insurance system and actual clinical practice settings in Japan. Herein, we present the English version of the JSCCR guidelines 2020 for HCRC.

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Clinical Utilization, Utility, and Reimbursement for Expanded Genomic Panel Testing in Adult Oncology

JCO Precision Oncology ◽

10.1200/po.20.00048 ◽

2020 ◽

pp. 1038-1048

Author(s):

Susan J. Hsiao ◽

Anthony N. Sireci ◽

Danielle Pendrick ◽

Christopher Freeman ◽

Helen Fernandes ◽

...

Keyword(s):

Clinical Practice ◽

High Risk ◽

Clinical Utility ◽

Medical Center ◽

Clinical Care ◽

Genomic Medicine ◽

Tumor Board ◽

Panel Testing ◽

Pan Cancer ◽

Cancer Panel

PURPOSE The routine use of large next-generation sequencing (NGS) pan-cancer panels is required to identify the increasing number of, but often uncommon, actionable alterations to guide therapy. Inconsistent coverage and variable payment is hindering NGS adoption into clinical practice. A review of test utilization, clinical utility, coverage, and reimbursement was conducted in a cohort of patients diagnosed with high-risk cancer who received pan-cancer panel testing as part of their clinical care. MATERIALS AND METHODS The Columbia Combined Cancer Panel (CCCP), a 467-gene panel designed to detect DNA variations in solid and liquid tumors, was performed in the Laboratory of Personalized Genomic Medicine at Columbia University Irving Medical Center. Utilization was characterized at test order. Results were reviewed by a molecular pathologist, followed by a multidisciplinary molecular tumor board where clinical utility was classified by consensus. Reimbursement was reviewed after payers provided final coverage decisions. RESULTS NGS was performed on 359 high-risk tumors from 349 patients. Reimbursement data were available for 246 cases. The most common reason providers ordered CCCP testing was for patients diagnosed with a treatment-resistant or recurrent tumor (n = 214; 61%). Findings were clinically impactful for 229 cases (64%). Molecular alterations that may inform future therapy in the event of progression or relapse were found in 42% of cases, and a targeted therapy was initiated in 23 cases (6.6%). The majority of tests were denied coverage by payers (n = 190; 77%). On average, insurers reimbursed 10.75% of the total NGS service charge. CONCLUSION CCCP testing identified clinically impactful alterations in 64% of cases. Limited coverage and low reimbursement remain barriers, and broader reimbursement policies are needed to adopt pan-cancer NGS testing that benefits patients into clinical practice.

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From Beyond the Grave: Use of Medical Information from the Deceased to Guide Care of Living Relatives

Current Genetic Medicine Reports ◽

10.1007/s40142-020-00196-6 ◽

2020 ◽

Vol 8 (4) ◽

pp. 147-153

Author(s):

Shereen Tadros ◽

Helena Carley ◽

Anneke Lucassen

Keyword(s):

Clinical Practice ◽

Medical Records ◽

Medical Information ◽

Genomic Medicine ◽

Family Members ◽

Novel Technologies ◽

Genetic Test Results ◽

Genetic Risks ◽

Human Tissue Act ◽

High Level

Abstract Purpose of Review In order to inform patients of their genetic risks, access to the medical records and/or stored samples of their relatives is often helpful. We consider some of the obstacles to such access when these relatives are deceased and suggest how they might be navigated. Recent Findings We explore an issue first highlighted in 2004 by Lucassen et al. (Br Med J 328:952–953, 2004) and re-evaluate it in the wake of novel technologies and mainstreaming of genomic medicine. We find that it is still an issue in practice despite professional guidelines advocating access to familial information (Joint Committee on Genomics in Medicine 2019) and that the Human Tissue Act 2004 is often wrongly constructed as a reason to block access. Access is often obstructed by failing to adopt the necessary relational concept of autonomy that applies in genetic medicine as reported by Horton and Lucassen (Curr Genet Med Rep 7:85–91, 2019) and by considering confidentiality to be absolute, even after death. In response to a recent legal case about the confidentiality of genetic test results, and their disclosure to family members (ABC v St George’s Healthcare NHS Trust 2020), Dove et al. (J Med Ethics 45:504–507, 2019) suggested that a duty to consider the interests of genetic relatives could co-exist alongside a duty of confidentiality to a patient. In this way, healthcare professionals can use professional judgement about the relative value of genetic information to family members. This is equally relevant in accessing deceased relatives’ information. A recent systematic review found a high level of acceptability of postmortem use of genetic data for medical research amongst participants and their relatives, and it is reasonable to assume that this acceptability would extend to clinical practice as reported by Bak et al. (Eur J Hum Genet 28:403–416, 2020). Summary Within clinical practice, access to medical records/samples of deceased relatives is often obstructed unnecessarily, potentially resulting in harm to the living relatives seeking advice. Consent to such access is important but need not be the bureaucratic hurdle that is often imposed.

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The Troubling Persistence of Race in Pharmacogenomics

The Journal of Law Medicine & Ethics ◽

10.1111/j.1748-720x.2012.00717.x ◽

2012 ◽

Vol 40 (4) ◽

pp. 873-885 ◽

Cited By ~ 6

Author(s):

Jonathan Kahn

Keyword(s):

Clinical Practice ◽

Genomic Medicine ◽

Scientific Progress ◽

Rock And Roll ◽

Racial Categories ◽

The Road ◽

Promised Land ◽

The Face ◽

Friedrich Engels ◽

On The Road

In 1878, Friedrich Engels famously wrote that on the road to realizing the communist utopia, “the state is not abolished, it withers away.” In a similar manner, biomedical researchers telling us that come the promised land of individualized genomic medicine, the need for using race will also “wither away” in the face of scientific progress. Such millennial hopes are, no doubt, sincere, but they enable the continued casual proliferation of racial categories throughout biomedical research, product development, marketing, and clinical practice. My contrasting quotation to frame this article is drawn from the 20th century pioneer of rock and roll, Buddy Holly (né Charles Hardin Holley) whose 1957 hit “Not Fade Away” begins with the line, “I’m gonna tell you how it's gonna be” — the point being that far from withering away, race is persisting even as genomic milestones are being reached and passed.

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Pharmacogenomics in Pain Management: A Review of Relevant Gene-Drug Associations and Clinical Considerations

Annals of Pharmacotherapy ◽

10.1177/10600280211003875 ◽

2021 ◽

pp. 106002802110038

Author(s):

Emily Brandl ◽

Zachery Halford ◽

Matthew D. Clark ◽

Chris Herndon

Keyword(s):

Clinical Practice ◽

Pain Management ◽

Health Care Professionals ◽

Data Extraction ◽

Clinical Care ◽

Genomic Medicine ◽

Opioid Use Disorder ◽

Patient Specific ◽

Therapeutic Effects ◽

Opioid Use

Objective: To provide an overview of clinical recommendations regarding genomic medicine relating to pain management and opioid use disorder. Data Sources: A literature review was conducted using the search terms pain management, pharmacogenomics, pharmacogenetics, pharmacokinetics, pharmacodynamics, and opioids on PubMed (inception to February 1, 2021), CINAHL (2016 through February 1, 2021), and EMBASE (inception through February 1, 2021). Study Selection and Data Extraction: All relevant clinical trials, review articles, package inserts, and guidelines evaluating applicable pharmacogenotypes were considered for inclusion. Data Synthesis: More than 300 Food and Drug Administration–approved medications contain pharmacogenomic information in their labeling. Genetic variability may alter the therapeutic effects of commonly prescribed pain medications. Pharmacogenomic-guided therapy continues to gain traction in clinical practice, but a multitude of barriers to widespread pharmacogenomic implementation exist. Relevance to Patient Care and Clinical Practice: Pain is notoriously difficult to treat given the need to balance safety and efficacy when selecting pharmacotherapy. Pharmacogenomic data can help optimize outcomes for patients with pain. With improved technological advances, more affordable testing, and a better understanding of genomic variants resulting in treatment disparities, pharmacogenomics continues to gain popularity. Unfortunately, despite these and other advancements, pharmacogenomic testing and implementation remain underutilized and misunderstood in clinical care, in part because of a lack of health care professionals trained in assessing and implementing test results. Conclusions: A one-size-fits-all approach to pain management is inadequate and outdated. With increasing genomic data and pharmacogenomic understanding, patient-specific genomic testing offers a comprehensive and personalized treatment alternative worthy of additional research and consideration.

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The Role of Decision Impact Studies in Genomic Medicine in Cancer Care: A Scoping Review and Bibliometric Analysis Protocol

10.21203/rs.3.rs-1062152/v1 ◽

2021 ◽

Author(s):

Gillian Parker ◽

Fiona A Miller

Keyword(s):

Decision Making ◽

Clinical Practice ◽

Bibliometric Analysis ◽

Scoping Review ◽

Cancer Care ◽

Clinical Decision Making ◽

Genomic Medicine ◽

Impact Studies ◽

The Impact

Abstract BackgroundDecision impact studies have become increasingly prevalent in oncology in recent years, particularly in breast cancer prognostic research. Such studies, which aim to evaluate the impact of a test on clinical decision-making, appear to be a new form of knowledge with the potential to impact clinical practice and regulatory decision-making in genomic medicine. Yet their origins, intended purpose and usage have not yet been explored. The objectives of this review are to identify and characterize decision impact studies in genomic medicine in cancer care. This review is comprised of two parts. First, we will conduct a scoping review to catalogue the characteristics of decision impact studies. The scoping review will be followed by a bibliometric analysis to understand the role of actors and institutions in the production and dissemination of this new knowledge, by identifying influential articles, authors, global research trends and collaboration networks. MethodsWe will conduct a scoping review and a bibliometric analysis of the scoping review results. The search will include four databases, Medline, Embase, Scopus and Web of Science, using a comprehensive search strategy developed through a preliminary review of the literature. Arksey & O’Malley’s scoping review methodology, with updates by Levac et al. will be used, and the review will be reported following the PRISMA-ScR checklist. The FT Model will be used to collect and analyze data on clinical utility of decision impact studies. Our bibliometric analysis, using Bibliometrix software, will elucidate the evolution of these studies and provide data on the trends, influences and networks emerging in the field.DiscussionThis review will be a first step in understanding the evolution and uses of these studies and their potential influence on the integration of emerging genomic technologies into clinical practice. By exploring their origin and evolution across space and time, this study will equip future research to investigate the role of these studies in decision-making for regulatory processes, including market access and public and private coverage decision-making. Systematic review registration: Open Science Framework osf.io/hm3jr

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The Genomic and Precision Medicine in Clinical Practice

The Physician ◽

10.38192/1.6.3.1 ◽

2020 ◽

Vol 6 (3) ◽

pp. 1-10

Author(s):

Dhavendra Kumar

Keyword(s):

Clinical Practice ◽

Homo Sapiens ◽

Personalised Medicine ◽

Molecular Genetic ◽

Medical Science ◽

Genomic Medicine ◽

Molecular Medicine ◽

Product Analysis ◽

Medical Disorders ◽

Practice Of Medicine

An important milestone in the history of medical science is the recent completion of the human genome sequence. The progress on identification of approximately 22,000 homo sapiens genes and their regulatory regions provides the framework for understanding the molecular basis of disease. This advance has also laid the foundation for a broad range of genomic tools that can be applied to medical science. These developments in the gene and gene product analysis across the whole genome have opened the way for targeted molecular genetic testing in a number of medical disorders. This is destined to change the practice of medicine. The future clinical practice will be more focused, precise, and individualized often referred to as “precision and personalised medicine.” However, despite these exciting advances, many practicing clinicians perceive the role of molecular genetics, in particular, that of medical genomics, as confined to the research arena with limited clinical applications. Genomic medicine applies the knowledge and understanding of all genes and genetic variation in human disease. The basic ingredient of the contemporary practice of medicine is clinical molecular medicine that encompasses genetic, genomic, and molecular applications. This article introduces genomics-based advances in personalised disease-susceptibility screening, diagnosis, prognostication, stratified approach for genomics-led therapeutics, and prediction of treatment outcome in various areas of medicine.

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Genomic Interventions in Medicine

Bioinformatics and Biology Insights ◽

10.1177/1177932218816100 ◽

2018 ◽

Vol 12 ◽

pp. 117793221881610 ◽

Cited By ~ 2

Author(s):

Oluwadurotimi S Aworunse ◽

Oluwatomiwa Adeniji ◽

Olusola L Oyesola ◽

Itunuoluwa Isewon ◽

Jelili Oyelade ◽

...

Keyword(s):

Clinical Practice ◽

Human Genome ◽

Paradigm Shift ◽

Biological Function ◽

Genomic Medicine ◽

Genome Project ◽

Biomedical Sciences ◽

Base Pairs ◽

Human Dna ◽

The Human Genome Project

Lately, the term “genomics” has become ubiquitous in many scientific articles. It is a rapidly growing aspect of the biomedical sciences that studies the genome. The human genome contains a torrent of information that gives clues about human origin, evolution, biological function, and diseases. In a bid to demystify the workings of the genome, the Human Genome Project (HGP) was initiated in 1990, with the chief goal of sequencing the approximately 3 billion nucleotide base pairs of the human DNA. Since its completion in 2003, the HGP has opened new avenues for the application of genomics in clinical practice. This review attempts to overview some milestone discoveries that paved way for the initiation of the HGP, remarkable revelations from the HGP, and how genomics is influencing a paradigm shift in routine clinical practice. It further highlights the challenges facing the implementation of genomic medicine, particularly in Africa. Possible solutions are also discussed.

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