Human Genome Project Research Articles

Whole-Genome Genotyping Using DNA Microarrays for Population Genetics.

The field of population genetics has exploded in the last two decades following the sequencing of the human genome in 2001 (Green et al. Nature 526:29-31, 2015). Tools to measure genetic variation have matured significantly throughout this advancement in knowledge (Lenoir and Giannella. J Biomed Discov Collab 1:11, 2006; Marzancola et al. Methods Mol Biol 1368:161-178, 2016). In this chapter, the focus is on the laboratory methods developed to perform genome-wide genotyping utilizing DNA microarrays, which is one of the most commonly used molecular techniques to assess global genetic variation (Heller MJ, Annu Rev Biomed Eng 4:129-153, 2002). DNA microarrays allow for the interrogation of hundreds of thousands of SNPs (single nucleotide polymorphisms) at once utilizing array-based technology in conjunction with fluorescent molecular labels in a process referred to as genotyping (Marzancola et al. Methods Mol Biol 1368:161-178, 2016). Genotype data can be utilized to associate certain phenotypes in relation with specific genetic variants within a population in a process known as genome-wide association studies or GWAS (Charlesworth and Charlesworth. Heredity (Edinb) 118(1):2-9, 2017; Casillas and Barbadilla. Genetics 205(3):1003-1035, 2017). This experimental technique is a multiple-day process involving the combination of DNA extraction, amplification, fragmentation, binding, and staining (Illumina Infinium HTS Assay Protocol Guide, 2013). Many vendors supply platforms and products to assess global genetic variation using DNA microarrays (Illumina Infinium HTS Assay Protocol Guide, 2013). In this chapter, the focus is on the methods utilized to generate high-quality genotype data with the Illumina® Infinium Global Screening Array. Although data analysis and quality control are not the focus for this chapter, they are also briefly addressed.

The role of massive demographic databases in intractable illnesses: Denomics for dementia.

Despite intensive research, effective treatments for many common and devastating diseases are lacking. For example, huge efforts and billions of dollars have been invested in Alzheimer's disease (AD), which affects over 50 million people worldwide. However, there is still no effective drug that can slow or cure AD. This relates, in part, to the absence of an animal model or cellular system that incorporates all the relevant features of the disease. Therefore, large scale studies on human populations and tissues will be key to better understanding dementia and developing methods to prevent or treat it. This is especially difficult because the dementia phenotype can result from many different processes and is likely to be affected by multiple personal and environmental variables. We hypothesize that analyzing massive volumes of demographic data that are currently available and combining this with genomic, proteomic, and metabolomic profiles of AD patients and their families, new insights into pathophysiology and treatment of AD may arise. While this requires much coordination and cooperation among large institutions, the potential for advancement would be life-changing for millions of people. In many ways this represents the next step in the information revolution started by the Human Genome Project.

The Human Genome Project and the Complete Sequence of a Human Genome

The Human Genome Project and the Complete Sequence of a Human Genome

Introduction of medical genomics and clinical informatics integration for p-Health care.

Achieving predictive, precise, participatory, preventive, and personalized health (abbreviated as p-Health) requires comprehensive evaluations of an individual's conditions captured by various measurement technologies. Since the 1950s, analysis of care providers' and physicians' notes and measurement data by computers to improve healthcare delivery has been termed clinical informatics. Since the 2010s, wide adoptions of Electronic Health Records (EHRs) have greatly improved clinical informatics development with fast growing pervasive wearable technologies that continuously capture the human physiological profile in-clinic (EHRs) and out-of-clinic (PHRs or Personal Health Records) to bolster mobile health (mHealth). In addition, after the Human Genome Project in the 1990s, medical genomics has emerged to capture the high-throughput molecular profile of a person. As a result, integrated data analytics is becoming one of the fast-growing areas under Biomedical Big Data to improve human healthcare outcomes. In this chapter, we first introduce the scope of data integration and review applications, data sources, and tools for clinical informatics and medical genomics. We then describe the data integration analytics at the raw data level, feature level, and decision level with case studies, and the opportunity for research and translation using advanced artificial intelligence (AI), such as deep learning. Lastly, we summarize the opportunities in biomedical big data integration that can reshape healthcare toward p-health.

Patient-Derived In Vitro and In Vivo Models of Cancer.

Over the last two decades, cancer researchers have taken the promise offered by the Human Genome Project and have expanded its capacity to use sequencing to identify the genomic alterations that give rise to and sustain individual tumors. This expansion has allowed researchers to identify and target highly recurrent alterations in specific cancer contexts, such as EGFR mutations in non-small cell lung cancer (Lynch et al, N Engl J Med 350:2129-2139, 2004; Sharifnia et al., Proc Natl Acad Sci U S A 111:18661-18666, 2014), BCR-ABL translocations in chronic myeloid leukemia (Deininger, Pharmacol Rev 55:401-423. https://doi.org/10.1124/pr.55.3.4 , 2003; Druker et al, N Engl J Med 344. 1038-1042, 2001; Druker et al, N Engl J Med 344:1031-1037. https://doi.org/10.1056/NEJM200104053441401 , 2001), or HER2 amplifications in breast cancer (Slamon et al, N Engl J Med 344:783-792. https://doi.org/10.1056/NEJM200103153441101 , 2001; Solca et al, Beyond trastuzumab: second-generation targeted therapies for HER-2-positive breast cancer. In: Sibilia M, Zielinski CC, Bartsch R, Grunt TW (eds) Drugs for HER-2-positive breast cancer. Springer, Basel, pp 91-107, 2011). Despite these advances in our capacity to identify the genetic alterations that drive tumor initiation, survival, and proliferation, our ability to target these alterations to provide effective treatment options for patients in need, particularly those with rare or advanced cancers, remains limited (Gould et al, Nat Med 21:431-439. https://doi.org/10.1038/nm.3853 , 2015). Patient-derived models of cancer offer one potential mechanism to overcome this barrier between the bench and bedside. Through the development and testing of patient-derived models of cancer, functional genomics efforts can identify tumor-specific drug sensitivities and thereby provide a connection between tumor genetics and effective therapeutics for patients in need of treatment options.Recognizing that cancer is a multifaceted set of disease states, the development of personalized models of cancer that can be used to compare treatment options, identify tumor-specific vulnerabilities, and guide clinical decision-making has tremendous potential for improving patient outcomes. This chapter will describe a representative set of patient-derived models of cancer, reviewing each of their strengths and weaknesses and highlighting how selecting a model to suit a specific question or context is critical. Each model comes with a unique set of pros and cons, making them more or less appropriate for each specific research or clinical question. As each model can be leveraged to gain new insights into cancer biology, the key to their deployment is to identify the most appropriate model for a specific context, while carefully considering the strengths and limitations of the selected model. When used appropriately, patient-derived models may prove to be the missing link needed to bring the promise of personalized oncology to fruition in the clinic.

A summary of feature selection techniques for gene chip in bioinformatics based on RSA algorithm

With the implementation of the human genome project, computational intelligence has been widely used in computational biology and bioinformatics. The purpose of this study is to study the feature selection technique of gene chip in bioinformatics. In this paper, a binary key scanning method is used to decompose the model power algorithm into a series of modular multiplication operations. At the same time, the combination of genetic algorithm and RSA algorithm is used to select the feature of high dimensional space. The problem of sample classification of two categories is solved. The method is used for the design of the sequencing chip and gene expression chip. The final research shows that the RSA algorithm is applied to the technology of gene chip selection, and a high-density gene chip design software system and experimental result analysis system can be developed.

The Current Progress of Psychiatric Genomics.

Psychiatric disorders such as bipolar disorder and schizophrenia are highly heritable. While the genetic contribution to psychiatric disorders is quite sure, specific genetic factors contributing to particular conditions have long been a mystery. Empowered by the initial report of the Human Genome Project, the analysis of the comprehensive set of the human genome, called "genomics," became possible. Subsequent development of large-scale genomic technologies enabled us to elucidate various disease-related genetic information, accelerating our understanding of various diseases. Genomic research on psychiatric disorders is not an exception. In this Review, I introduce significant advancements in psychiatric genomics with a special focus on our investigation of bipolar disorder. International consortiums and advocacy groups accelerate psychiatric genomics, increasing the sample size and statistical power for robust findings. The genetic architecture of schizophrenia has been elucidated in both common and rare variant studies. The genetic architecture of autism spectrum disorder (ASD) has been elucidated mainly by rare variant analysis. As to bipolar disorder, common variant analysis precedes rare variant analysis, but we are struggling to elucidate relevant rare variants. While the genomic approach has explained specific genetic factors for particular disorders, overlapping risk genes or pleiotropy has been observed more than expected. The boundary in the current nosology of psychiatric disorders is more or less challenged. To understand the genotype-phenotype relation more deeply, an attempt to understand phenotypes based on genotypes, called the "genotype first" approach, has started. I discuss this new approach for better understanding and treatment of psychiatric disorders.

Molecular Diagnostics for Ocular Infectious Diseases: LXXVIII Edward Jackson Memorial Lecture

To review the use of molecular diagnostic techniques in the management of ocular infectious disease. Retrospective review. A combination of literature review and personal recollections are used. Although the broad term molecular diagnostics may encompass techniques to identify pathogens via protein or metabolomic signatures, this review concentrates on detection of pathogen nucleic acid as an indicator of infection. The introduction of the polymerase chain reaction (PCR) in 1985 opened a new era in analysis of nucleic acids. This technique was soon applied to the detection of potential pathogen DNA and RNA, including viruses, bacteria, and parasites in infectious eye disease. Advances in PCR have allowed class-specific diagnostics (ie, pan-bacterial and pan-fungal), quantitation of pathogen DNA, and multiplexed testing. The Human Genome Project in the early 2000s greatly accelerated development of DNA sequencers, ushering in the era of "Next Generation Sequencing" and permitting pathogen-agnostic methods for the detection of potential infectious agents. Most recently, new technologies such as nanopore sequencing have reduced both cost and equipment requirements for whole-genome sequencing; when coupled with real-time sequence analysis methods, these methods offer the promise of true, real-time, point-of-service ocular infectious disease diagnostics. Molecular methods for pathogen detection have greatly advanced the diagnosis of ocular infectious disease. Further methodologic advances will have a direct impact on the management of these conditions.

The journey from next-generation sequencing to personalized medicine?

Following the completion of the Human Genome Project in 2003, sequencing has become one of the most influential tools in biomedical research. Sequencing took off in earnest with the development of next-generation sequencing techniques in the early 2000s, making sequencing high throughput, faster, more affordable and commercially available to individual laboratories. With the improved understanding of the role of genetics in human disease, coupled with rapid advancement in sequencing technology, we are progressively unlocking the secrets of how our genes control the development of diseases. This has the potential to revolutionize medicine and healthcare, providing a significant step towards personalized medicine. How did we arrive here? What are the major achievements of sequencing technologies of the past two decades and how does it help us to piece the clues together towards personalized treatments and diagnosis?

A wonderful time – exciting progress made in the past 20 years in genetics powered by the Human Genome Project

A wonderful time – exciting progress made in the past 20 years in genetics powered by the Human Genome Project

High-altitude adaptation: Role of genetic and epigenetic factors

After the completion of the Human Genome Project in 2003, the field of genetics has witnessed massive progress that spanned research in high-altitude biology also. Especially the decade of 2010s witnessed the most of it and revealed various genetic signatures of high-altitude adaptation in Tibetans, Andeans and Ethiopians. High-altitude area, with its extreme environment, harbors a tremendous potential for gene-environment interaction, an aspect that could be explored by epigenetic studies. There are only four original articles till now which explore the epigenetic aspect of high-altitude adaptation or acclimatization. However, there is no comprehensive review to provide complete information on the genetic and epigenetic aspects of high-altitude adaptations. Hence, we have prepared this mini-review to summarize the genetic and epigenetic studies that have correlated the high-altitude adaptation or acclimatization, until recently.

Mastering health: liberating beauty : Will the cosmetics of tomorrow be genetic?

Systems that have yet to stand the test of time carry imperfections that need to be skillfully addressed with the least amount of authoritarianism as possible. The communication and transmission of knowledge that we hold dear are essential pillars to social progress. As such, it is necessary to analyze with the greatest scientific objectivity the applications arising from the deep revolution rooted in the total sequencing of the human genome which affects all aspects of our societies. This extraordinary advance in human knowledge and the resulting technological achievements should not lend themselves to the fears or fantasies often fueled by those who criticize all scientific progress calling into question the most established dogmas. Certain supposedly scholarly analyses of the health situation with which we are currently confronted worldwide are a perfect illustration of this unfortunate trend. It is undeniable that the progress of molecular genetics has opened up a wide range of applications in many fields, affecting the well-being of humans, their mental and physical health. The apparent universal and individual interest for the most advanced genetic profile analyzing technologies is a testimony to this strong common desire to better understand one's genetic heritage and to control their usage. Despite this movement, little attention is given to the recent advances in genetics applied to essential aspects of the social life of individuals through their inter-personal interactions. It is particularly distressing that the contributions of molecular biology and genetics to the daily well-being of individuals have not yet allowed open-access non-medical genetic testing to gain the recognition it deserves and are still viewed as recreational applications. Through an analysis of the cross influences that genetic biotechnologies have had since the beginning of the century in the fields of nutrition and cosmetics, we have tried to project ourselves into the near future which should witness major behavioral and social upheavals.

Gestational Age Dependence of the Maternal Circulating Long Non-Coding RNA Transcriptome During Normal Pregnancy Highlights Antisense and Pseudogene Transcripts.

In the post-genomic era, our understanding of the molecular regulators of physiologic and pathologic processes in pregnancy is expanding at the whole-genome level. Longitudinal changes in the known protein-coding transcriptome during normal pregnancy, which we recently reported (Gomez-Lopez et al., 2019), have improved our definition of the major operant networks, yet pregnancy-related functions of the non-coding RNA transcriptome remain poorly understood. A key finding of the ENCODE (Encyclopedia of DNA Elements) Consortium, the successor of the Human Genome Project, was that the human genome contains approximately 60,000 genes, the majority of which do not encode proteins. The total transcriptional output of non-protein-coding RNA genes, collectively referred to as the non-coding transcriptome, is comprised mainly of long non-coding RNA (lncRNA) transcripts (Derrien et al., 2012). Although the ncRNA transcriptome eclipses its protein-coding counterpart in abundance, it has until recently lacked a comprehensive, unbiased, genome-scale characterization over the timecourse of normal human pregnancy. Here, we annotated, characterized, and selectively validated the longitudinal changes in the non-coding transcriptome of maternal whole blood during normal pregnancy to term. We identified nine long non-coding RNAs (lncRNAs), including long intergenic non-coding RNAs (lincRNAs) as well as lncRNAs antisense to or otherwise in the immediate vicinity of protein-coding genes, that were differentially expressed with advancing gestation in normal pregnancy: AL355711, BC039551 (expressed mainly in the placenta), JHDM1D-AS1, A2M-AS1, MANEA-AS1, NR_034004, LINC00649, LINC00861, and LINC01094. By cross-referencing our dataset against major public pseudogene catalogs, we also identified six transcribed pseudogenes that were differentially expressed over time during normal pregnancy in maternal blood: UBBP4, FOXO3B, two Makorin (MKRN) pseudogenes (MKRN9P and LOC441455), PSME2P2, and YBX3P1. We also identified three non-coding RNAs belonging to other classes that were modulated during gestation: the microRNA MIR4439, the small nucleolar RNA (snoRNA) SNORD41, and the small Cajal-body specific ncRNA SCARNA2. The expression profiles of most hits were broadly suggestive of functions in pregnancy. These time-dependent changes of the non-coding transcriptome during normal pregnancy, which may confer specific regulatory impacts on their protein-coding gene targets, will facilitate a deeper molecular understanding of pregnancy and lncRNA-mediated molecular pathways at the maternal-fetal interface and of how these pathways impact maternal and fetal health.

Assessment of knowledge, concerns and support of physicians towards bio banks in Pakistan, and their willingness to donate

Bio specimen collection and storage and bio bank data have numerous ethical issues. Stakeholders' views on these ethical problems are essential because they may assist establish ethical standards for bio banking. The aim of this research is to assess Pakistani doctors' views and knowledge regarding bio banking and willingness to donate. A cross-sectional online survey was conducted to poll Pakistani physicians’ attitudes and views regarding bio banks. Between January and April 2021.473 doctors completed the questionnaire. Participants had sufficient knowledge of bio banking. Of those, 74.2 "Human Genome Project," while 72.5% revealed that they were familiar with the term "bio banking." 61.5% of the participants showed their willingness to donate bio specimens. Marital status (0.001), faculty (0.001), involvement in research (0.038), blood and tissue testing in recent years (0.420) and demonstrated a significant relationship with willingness to donate. While general health status, recent hospitalization, family history of inherited diseases, incidence of chronic disease, and gender had no statistically significant associations with willingness to donate. Although65.8% agreed that bio banks should be able to exchange bio specimens with foreign research groups and only 49.5% agreed on collaboration with pharmaceutical companies.

Idealisation, genetic explanations and political behaviours: Notes on the anti-reductionist critique of genopolitics

The rapid development of genetic research, determined, among others, by the requirements of The Human Genome Project, and a gradual reorientation in the perception of the role of nature and culture in the process of shaping complex networks of human relations by some political scientists, result in the increasing application of genetic data and methods in research regarding political behaviours. One of the key philosophical objections against the studies of the genetic foundations of political behaviours is that of excessive reductionism. This is supposed to manifest itself in the inadequate selection of the level of analysis for the explained phenomenon, the incompleteness of explanations and their low utility. My findings show that this objection is not sufficiently supported by contemporary science. Both studies using classical behavioural genetic methodologies and studies using DNA-based methods show that genes most likely play a role in political behaviours. Emphasising the significance of genetic influences in the midst of multiple extra-genetic interactions generates highly idealised explanations. Using the conceptual apparatus of the deformational concept of culture, I have demonstrated that the omission of a number of important extra-genetic influences by researchers is a consequence of focusing on specific causal patterns. This omission, however, does not entail negating the influence of non-genetic factors and, importantly, it may not have to be permanent. Following this approach, if correct, the reductionism of research into the genetic foundations of political behaviours is a standard cognitive procedure applied in science.

Using Genomic Techniques in Sports and Exercise Science: Current Status and Future Opportunities.

The past two decades have built on the successes of the Human Genome Project identifying the impact of genetics and genomics on human traits. Given the importance of exercise in the physical and psychological health of individuals across the lifespan, using genomics to understand the impact of genes in the sports medicine field is an emerging field. Given the complexity of the systems involved, high-throughput genomics is required to understand genetic variants, their functions, and ultimately their effect on the body. Consequently, genomic studies have been performed across several domains of sports medicine with varying degrees of success. While the breadth of these is great, they focus largely on the following three areas: 1) performance; 2) injury susceptibility; and 3) sports associated chronic conditions, such as osteoarthritis. Herein, we review literature on genetics and genomics in sports medicine, offer suggestions to bolster existing studies, and suggest ways to ideally impact clinical care.

Are We Prepared for Precision Public Health? An Examination of Genomics Content in Graduate Public Health Programs.

With the completion of the Human Genome Project and swift development of genomic technologies, public health practitioners can use these advancements to more precisely target disease interventions to populations at risk. To integrate these innovations into better health outcomes, public health professionals need to have at least a basic understanding of genomics within various disciplines of public health. This descriptive study focused on the current level of genomics content in accredited master of public health (MPH) programs in the United States. We conducted an internet search on all 171 Council on Education for Public Health (CEPH)-accredited MPH programs in the United States for genomics content in required and elective courses using the search terms "genetics," "genomics," and "molecular." Of the 171 CEPH-accredited MPH programs examined, 52 (30.4%) schools and programs in 34 states offered some type of genomics education. Thirty-five (20.5%) schools and programs had a course in genetic epidemiology, 29 (16.9%) had a course in genetic biostatistics or bioinformatics, and 17 (9.9%) had a course in general public health genomics. The remaining 119 offered no course with a focus on genetics or genomics. In addition, some electives or specifically focused courses related to genomics were offered. We found inadequate training in public health genomics for MPH students. To realize the promise of precision public health and to increase the understanding of genomics among the public health workforce, MPH programs need to find ways to integrate genomics education into their curricula.

Scientific and Regulatory Policy Committee Points to Consider: Nonclinical Research and Development of In Vivo Gene Therapy Products, Emphasizing Adeno-Associated Virus Vectors.

Sequencing of the human genome and numerous advances in molecular techniques have launched the era of genetic medicine. Increasingly precise technologies for genetic modification, manufacturing, and administration of pharmaceutical-grade biologics have proved the viability of in vivo gene therapy (GTx) as a therapeutic modality as shown in several thousand clinical trials and recent approval of several GTx products for treating rare diseases and cancers. In recognition of the rapidly advancing knowledge in this field, the regulatory landscape has evolved considerably to maintain appropriate monitoring of safety concerns associated with this modality. Nonetheless, GTx safety assessment remains complex and is designed on a case-by-case basis that is determined by the disease indication and product attributes. This article describes our current understanding of fundamental biological principles and possible procedures (emphasizing those related to toxicology and toxicologic pathology) needed to support research and development of in vivo GTx products. This article is not intended to provide comprehensive guidance on all GTx modalities but instead provides an overview relevant to in vivo GTx generally by utilizing recombinant adeno-associated virus-based GTx-the most common in vivo GTx platform-to exemplify the main points to be considered in nonclinical research and development of GTx products.

A gyógyszerkutatás új irányzatai: hatékonyság és biztonságosság

Összefoglaló. A betegségek mögött meghúzódó biokémiai, sejtbiológiai változások molekuláris szintű megértése a korszerű gyógyszerkutatás alapját képezi. A kiválasztott biológiai célpont, leggyakrabban egy fehérje, működésének gátlásától vagy fokozásától azt reméljük, hogy elősegíti a gyógyulást. A hagyományos gyógyszerkutatási megközelítések molekuláris alapját a kiválasztott fehérjével való közvetlen kölcsönhatás jelentette. Ugyanakkor a sejten belüli molekuláris biológiai folyamatok részletesebb megértése több új megközelítést nyitott a gyógyszerkutatás számára. A közlemény ezeket a gyógyszerkutatási irányzatokat mutatja be, külön kitérve biztonságosságukra. Summary. Human diseases originate from and are accompanied by changes in the biochemistry of cells. The molecular level understanding of these deviations from normal functioning is key to the curing of the diseases, therefore a principal objective of drug discovery. The key-lock principle postulated by Emil Fischer serves well the understanding of most enzymatic processes and has been helping researchers both in academia and industry to discover new drugs. The binding of a small molecule to the target protein and inhibiting or activating its function is the basis for the efficient functioning of a long list of current drugs. Sometimes the desired biological effect comes from the selective action on a single protein, in other instances it is the combined effect on the working of several proteins. The appropriate selectivity profile is key to the safety and efficiency of the drug in both cases. The completion of the Human Genome Project, in parallel with a significant improvement in the performance of the analytical instrumentation, increased our molecular and systemic level understanding of diseases immensely. Analysis of the differences between healthy and diseased cells and tissues led to the identification of new targets, a lot of which are not classical enzymes but proteins exerting their effect through molecular interactions with other proteins or nucleic acids. Although these proteins were considered undruggable some decades ago, their disease modifying potential led to the discovery of new approaches and modalities to target them. The inhibition of protein-protein interactions, for example, requires the selective targeting of hydrophobic surfaces, sometimes with very high affinity. Drug candidates acting through this molecular mechanism are typically beyond the size of classical drugs that might complicate their development. Besides interacting directly with the protein of interest we might also impact its working through manipulating its quantity within the cell. Interference with the proteasomal degradation of cellular proteins, blocking its working, or hijacking it to selectively increase the degradation of our protein of choice are promising new modalities that are transitioning from research into clinical practice. Alternatively, one might also interfere with the transcriptional machinery. Selective blocking of the messenger RNA responsible for carrying the sequence information of the targeted protein by using so called antisense oligonucleotides, small interfering RNAs, or micro RNAs can result in a decreased synthesis of the protein. Appropriately designed oligonucleotides can also enhance protein synthesis or lead to an alteration of the sequence to synthesize for a given protein. Finally, we might also target the epigenetic regulatory machinery, which is in charge of unpacking the DNA double helix from its storage form and making it available for transcription. This interference typically leads to a more complex change, the parallel modulation of the level of several proteins at the same time.

Assessment of Knowledge, Concerns and Support of Physicians towards Bio banks in Pakistan, and their Willingness to Donate

Bio specimen collection and storage and bio bank data have numerous ethical issues. Stakeholders' views on these ethical problems are essential because they may assist establish ethical standards for bio banking. Physicians are key stakeholders because they may contact prospective participants and become bio bank users. The aim of this research is to assess Pakistani doctors' views and knowledge regarding bio banking and willingness to donate. A cross-sectional online survey was conducted to poll Pakistani physicians’ attitudes and views regarding bio banks. Between January and April 2021.473 doctors completed the questionnaire. Participants had sufficient knowledge of bio banking. Of those, 74.2 stated that they had heard of the term "Human Genome Project," while 72.5% revealed that they were familiar with the term "bio banking." 61.5% of the participants showed their willingness to donate bio specimens. Marital status (0.001), faculty (0.001), involvement in research (0.038), blood and tissue testing in recent years (0.420) and demonstrated a significant relationship with willingness to donate. While general health status, recent hospitalization, family history of inherited diseases, incidence of chronic disease, and gender had no statistically significant associations with willingness to donate. Although65.8% agreed that bio banks should be able to exchange bio specimens with foreign research groups and only 49.5% agreed on collaboration with pharmaceutical companies. Although more than half of Pakistani doctors heard of bio banking, the presence of bio banks in Pakistan was restricted. They were concerned about marketing, widespread consent and confidentiality. There is a great gap of knowledge and awareness among stakeholders that should encompass several educational initiatives. Community conversations on the problems of marketing and the return of research findings should begin to achieve an agreement.