BACKGROUND: The Clinical Genomics & Genomic Medicine Education subcommittee of the Human Genome Organization (HUGO) reports on the results of an exploratory genomic medicine survey of healthcare providers (clinicians) in low- and middle-income countries. RESULTS: 281 clinicians from 17 low- and middle-income countries responded to the survey. Representing 20 medical specialties, only 13.6% of clinician respondents are comfortable when discussing genomics in clinical settings. Over 90% of clinicians recognize that genetics and genomics are relevant to their practice and that there needs to be genetics/genomic assessment of patients. Respondents report a wide range of learning style preferences including self-paced online (asynchronous) and live-online educational programming covering introductory content, clinical guidelines for monogenic disorders and when to utilize genetic or genomic testing. CONCLUSIONS: Clinician respondents recognize the importance of genomics and are eager for continuing medical education. Reponses from the survey suggest that a larger scale, second phase survey should be distributed globally.

Effective and affordable treatment for rare diseases remains a huge challenge. Only a few drugs have made inroads into the therapeutic arena for rare diseases. The current focus is shifted to different uses for expensive new drugs, referred to as drug repurposing. It is also called drug repositioning or reprofiling, refers to the identification of new therapeutic applications of existing or investigational drugs. This concept and novel approaches have promising role in the treatment of many potentially incurable diseases, particularly certain forms of cancer, neurodegenerative conditions, immunological disorders and uncommon infectious diseases. There are huge expectations filled with optimism that the drug repurposing would offer fresh opportunities for the treatment and management of rare diseases. This is undoubtedly more relevant for low and middle income countries.

In 1954, the seminal short paper in the Nature from James Watson and Francis Crick proposed the double helix model of deoxyribose nucleic acid. This amateur-looking concept changed the way molecular biology is now perceived. We are now celebrating the 70 years of the phenomenon discovery of the modern science that has revolutionized life sciences with a huge impact on many other related scientific disciplines. Fifty years later, the Human Genome Project offered the nearly complete draft sequence of the human genome that is now fully sequenced in the 70th year of the double helix. Technological advances have led to a rapid reduction in the cost of whole genome sequencing. It is now possible for anyone to get the personal genome sequenced for

With increased technological sophistication and rapidly reducing costs, currently, a huge amount of personal and population-level human genomic data and information is generated globally. There is an urgent need for an adequately curated and annotated human genome variant database for successful and large-scale application and translation in biomedical research, medical (healthcare) applications, socio-economic benefits and many other applications. The bulk of the available genomic data is generated from peoples of European descent. The genome data, particularly the human genome variant data is skewed with minimal content from other populations, particularly the minority or diverse populations. It has further contributed to global health inequality, which is visible in inefficiency, lack of effectiveness and disparity in clinical diagnosis, and precision-personalized medicine and preventive healthcare. Inevitably, this gap is widened with ensuing socio-economic implications. This problem is now faced by medical practitioners and healthcare providers in India, South Asia and other low and middle-income countries (LMICs). The current review provides views and critical appraisal of the current status of genomic research, clinical utility and genome variant databases in India and South Asia. A few observations and recommendations are made to ensure harmonization that requires further structured audit and appraisal by the indigenous populations’ consortium. Emphasis is made on the urgent need for statutory regulation of genome data generation, storage, and retrieval systems in research and diagnostic genomic laboratories.

The COVID-19 pandemic has impacted gravely all the economic activities across the world, and India is no exception. One of the victims and most vulnerable sectors of the Indian economy is the micro, small and medium enterprises (MSMEs) sector because of its size, scale of operations and financial resources. The present study is aimed at assessing the impact of COVID-19 on MSMEs operating in the Karimnagar district of Telangana State and diagnosing the issues and challenges being faced by the enterprises during the pandemic period. The study is an analytical and descriptive type of research in nature and it is based on both primary and secondary data. The primary data were collected from about 120 MSME units in the Karimnagar district by administering a structured and pretested questionnaire. Descriptive statistics along with chi-square and ANOVA were used with the help of SPSS to analyse the data. The study found that two-thirds of the enterprise’s operations were extremely affected and experienced the reduction of orders from the customers, while about 41.7% of the MSMEs’ sales turnover plummeted from 40% to 60% due to virulent virus. Shockingly, the majority of the enterprises i.e., 60% incurred losses, and about 26.7% of the MSMEs decided to scale down or sell their units or shut down the operations due to various issues and challenges such as lack of orders, mounting manufacturing costs, payment of EMIs and statutory expenses. The study suggests that the government should ensure to provide free access to loans, waiver of the interest on EMIs and statutory payments besides relaxing the taxes for some period to revive the MSME sector as it is widely acclaimed as the golden duck of the Indian economy!

Any kind of skill, craftsmanship, technical know-how, or theoretical knowledge base requires strong teaching and training base that needs to be continuously evolving and improving. The science of genes and genomes is relatively new arrival on the vast landscape of science and technology. Genomics is the leader of a multitude of related scientific disciplines with omic suffix like proteomics, metabolomics, glycomics, lipidomics, and many more. However, all these branches of genome sciences are closely interlinked with common essential knowledge and skills expected at all levels. There are several regional, national, and international genomic education and training programs currently offered. This chapter reviews and provides the landscape of major global efforts with the common purpose of acquiring the knowledge and practicing essential genomic skills and competencies.

PURPOSE:Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development, delivery, and evaluation of genomics education interventions.METHODS:Draft standards were derived from literature (25 items from 21 publications). Thirty-six international experts were purposively recruited for three rounds of a modified Delphi process to reach consensus on relevance, clarity, comprehensiveness, utility, and design.RESULTS:The final standards include 18 items relating to development and delivery of genomics education interventions, 12 relating to evaluation, and 1 on stakeholder engagement.CONCLUSION:These Reporting Item Standards for Education and its Evaluation in Genomics (RISE2 Genomics) are intended to be widely applicable across settings and health professions. Their use by those involved in reporting genomics education interventions and evaluation, as well as adoption by journals and policy makers as the expected standard, will support greater transparency, consistency, and comprehensiveness of reporting. Consequently, the genomics education evidence base will be more robust, enabling high-quality education and evaluation across diverse settings.

The Editors1The LancetIndia's COVID-19 emergency.Lancet. 2021; 3971683Summary Full Text Full Text PDF PubMed Scopus (95) Google Scholar draw attention to India's economic capabilities, the challenges of a huge diverse population, and the dangers of false optimism amidst a second wave of SARS-CoV-2. However, some overarching conclusions belie facts and evidence. First, no single strategy has worked totally in a country's favour with regards to tackling the COVID-19 crisis. This struggle is evident from infection and mortality rates in countries with differing strategies.2Claeson M Hanson S The Swedish COVID-19 strategy revisited.Lancet. 2021; 3971619Summary Full Text Full Text PDF PubMed Scopus (14) Google Scholar No country has been largely effective in tackling COVID-19 except China, which should encourage scientific minds to question the numbers and basis for no novel variants being reported there without independent verification. Second, statistical modelling esti­mates by the Institute for Health Metrics and Evaluation have been notably off-target previously in the USA.3McConnell S This is why you should ignore IHME's forecasts.https://towardsdatascience.com/this-is-why-you-should-ignore-ihmes-forecasts-4634a4db0e85Date: Sept 9, 2020Date accessed: May 13, 2021Google Scholar The Indian Council of Medical Research modelling also might have been inaccurate, but to call it false and to then rely on future mortality estimates for India from the same Institute for Health Metrics and Evaluation is equally on thin ice. Third, as of June 16, 2021, India's so-called botched vaccination cam­paign1The LancetIndia's COVID-19 emergency.Lancet. 2021; 3971683Summary Full Text Full Text PDF PubMed Scopus (95) Google Scholar is only third (after China and the USA) in terms of total numbers of vaccines administered, according to the New York Times' vaccination tracker, and has achieved one of the highest rates of vaccination since its inception. The main challenge is in terms of the percentage population, considering that India's population is close to 1·3 billion people. Lastly, for views such as "Modi's Government has seemed more intent on removing criticism…than trying to control the pandemic", "The gov­ernment…creating mass confusion", "self-inflicted national catastrophe", and "Modi's actions in attempting to stifle criticism…are inexcusable",1The LancetIndia's COVID-19 emergency.Lancet. 2021; 3971683Summary Full Text Full Text PDF PubMed Scopus (95) Google Scholar diametrically opposite views exist. The point is that readers of scientific journals look for evidence-based views. The fact is that international flights continued from Wuhan, China during the initial COVID-19 outbreak and the Wuhan laboratory was hidden from scrutiny4Bloom JD Chan YA Baric RS et al.Investigate the origins of COVID-19.Science. 2021; 372: 694Crossref PubMed Scopus (86) Google Scholar requires investigation and scientific answers. We declare no competing interests. India's COVID-19 emergencyThe scenes of suffering in India are hard to comprehend. As of May 4, more than 20·2 million cases of COVID-19 had been reported, with a rolling average of 378 000 cases a day, together with more than 222 000 deaths, which experts believe are likely to be substantial underestimates. Hospitals are overwhelmed, and health workers are exhausted and becoming infected. Social media is full of desperate people (doctors and the public) seeking medical oxygen, hospital beds, and other necessities. Yet before the second wave of cases of COVID-19 began to mount in early March, Indian Minister of Health Harsh Vardhan declared that India was in the "endgame" of the epidemic. Full-Text PDF

Despite tremendous advances in making an accurate diagnosis, most therapeutic programs lack precision and target the "average model patient." While "one-size-fits-all-approach" treatments can be very successful for some patients, it often fails for many others. However, this has changed with rapid scientific and technical advances facilitating the practice of evidence-based personalized precision medicine. The power of evidence derived from genomic and molecular scientific advances is undisputed. The whole process involves a stepwise approach in building the holistic picture referred to as stratified medicine with the ultimate aim of individualized or personalized therapeutic interventions. The new exciting opportunity for stratified and personalized medicine is introduced in this chapter. The chapter discusses the integrated organization and delivery of the genomic and molecular medicine service.

Since the discovery of the double helix structure of the nucleic acid, the focus of genetics moved ahead rapidly leading to the sequencing of human and many other genomes. This development, facilitated many genomic applications including medicine and healthcare. However, the developments in molecular biology and biotechnologies also led to introduction of molecular medicine. This chapter looks at the fundamentals of genomics in the molecular context. It is expected that the reader will find contents of this chapter helpful in understanding and grasping the major components of clinical molecular medicine.

Apart from understanding cellular and molecular mechanisms, the strength of molecular medicine is largely appreciated by diagnostic precision and exploiting molecular pathology for specific therapeutic interventions. In the previous chapters, information and discussion are confined to genetic and genomic basis of drug metabolism and drug response. In the current chapter, recombinant drugs and new therapeutic avenues targeting at specific genes, molecules, and cellular structures are discussed. There are many such approaches largely confined to biomedical research. However, few are now approved for clinical use, and the list is fast expanding. The chapter includes separate sections on stem-cell therapy, gene therapy, antisense oligonucleotides, ribozymes, RNA interference, aptamers, and CRISPR/Cas9 gene/genome editing. In keeping with the size and scope of the book, scientific and experimental details are avoided. Emphasis is given to potential clinical applications. There are key references cited at the end of chapter to assist interested reader and student for further reading.

This chapter provides the overview and highlights clinically relevant aspects of genetic, genomic and molecular bases of all forms of diabetes mellitus that are essential for all categories of clinicians including public health and allied healthcare professionals.