This document discusses the potential for remote delivery of genetic counseling through telemedicine. It notes that demand for genetic counselors is outpacing supply. The document proposes building a comprehensive platform to enable remote genetic testing, counseling, and follow-up. Key components would include educational tools and counseling sessions delivered virtually. Over time, the goal is to develop more automated solutions using advanced algorithms. This could help address the shortage of genetic counselors and improve access to genetic testing and counseling services.
Crowdsourcing applied to knowledge management in translational research: the ...SC CTSI at USC and CHLA
Date: November 8th, 2018
Speaker: Andrew Su, PhD, Professor, Department of Integrative, Structural and Computational Biology, The Scripps Research Institute
Overview: Crowdsourcing involves the engagement of large communities of individuals to collaboratively accomplish tasks at massive scale. These tasks could be online or offline, paid or for free. But how can crowdsourcing science help your research? This webinar will describe two crowdsourcing projects for translational research, both of which aim to better organize biomedical information so that it can be more easily accessed, integrated, and queried:
First, the goal of the Gene Wiki project is to create a community-maintained knowledge base of all relationships between biological entities, including genes, diseases, drugs, pathways, and variants. This project draws on the collective efforts of informatics researchers from a wide range of disciplines, including bioinformatics, cheminformatics, and medical informatics.
Second, the Mark2Cure project partners with the citizen scientist community to extract structured content from biomedical abstracts with an emphasis on rare disease. Although citizen scientists do not have any specialized expertise, after receiving proper training, Mark2Cure has shown that in aggregate they perform bio-curation at an accuracy comparable to professional scientists.
Medical genetics is a branch of human genetics confined to studying structure and function of the genetic material in health and disease states of human beings.
Research Ethics Forum: Ethical Challenges in Trials of Human Genome Editing a...SC CTSI at USC and CHLA
In her 60-minute presentation, Professor Charo addressed Ethical Challenges in Trials of Human Genome Editing and Gene Therapy, as gene therapy and genome editing clinical trials involve ethical challenges not always found in other areas of research.
INTRODUCTION
DNA VACCINES
GENE THERAPY
TIME LINE OF DEVELOPING GENE THERAPY
GENE THERAPY STRATEGIES
TECHNOLOGY OF CLASSICAL GENE THERAPY
PRINCIPLES OF GENE TRANSFER
VECTORS
VIRAL VECTORS
NON-VIRAL VECTORS
APPLICATIONS OF GENE THERAPY
ETHICAL IMPLICATIONS
THE FUTURE
CONCLUSION
REFERENCES
Crowdsourcing applied to knowledge management in translational research: the ...SC CTSI at USC and CHLA
Date: November 8th, 2018
Speaker: Andrew Su, PhD, Professor, Department of Integrative, Structural and Computational Biology, The Scripps Research Institute
Overview: Crowdsourcing involves the engagement of large communities of individuals to collaboratively accomplish tasks at massive scale. These tasks could be online or offline, paid or for free. But how can crowdsourcing science help your research? This webinar will describe two crowdsourcing projects for translational research, both of which aim to better organize biomedical information so that it can be more easily accessed, integrated, and queried:
First, the goal of the Gene Wiki project is to create a community-maintained knowledge base of all relationships between biological entities, including genes, diseases, drugs, pathways, and variants. This project draws on the collective efforts of informatics researchers from a wide range of disciplines, including bioinformatics, cheminformatics, and medical informatics.
Second, the Mark2Cure project partners with the citizen scientist community to extract structured content from biomedical abstracts with an emphasis on rare disease. Although citizen scientists do not have any specialized expertise, after receiving proper training, Mark2Cure has shown that in aggregate they perform bio-curation at an accuracy comparable to professional scientists.
Medical genetics is a branch of human genetics confined to studying structure and function of the genetic material in health and disease states of human beings.
Research Ethics Forum: Ethical Challenges in Trials of Human Genome Editing a...SC CTSI at USC and CHLA
In her 60-minute presentation, Professor Charo addressed Ethical Challenges in Trials of Human Genome Editing and Gene Therapy, as gene therapy and genome editing clinical trials involve ethical challenges not always found in other areas of research.
INTRODUCTION
DNA VACCINES
GENE THERAPY
TIME LINE OF DEVELOPING GENE THERAPY
GENE THERAPY STRATEGIES
TECHNOLOGY OF CLASSICAL GENE THERAPY
PRINCIPLES OF GENE TRANSFER
VECTORS
VIRAL VECTORS
NON-VIRAL VECTORS
APPLICATIONS OF GENE THERAPY
ETHICAL IMPLICATIONS
THE FUTURE
CONCLUSION
REFERENCES
Computational challenges in precision medicine and genomicsGary Bader
Genomics is mapping complex data about human biology and promises major medical advances. In particular, genomics is enabling precision medicine, the use of a patient's genome and physiological state to improve therapeutic efficacy and outcome. However, routine use of genomics data in medical research is in its infancy, due mainly to the challenges of working with "Big data". These data are so complex and large that typical researchers are not able to cope with them. Collectively, these data require an understanding of many aspects of experimental biology and medicine to correctly process and interpret. Data size is also an issue, as individual researchers may need to handle tens of terabytes (genomes from a few hundred patients), which is challenging to download and store on typical workstations. To effectively support precision medicine, scientists from a wide range of disciplines, including computer science, must develop algorithms to improve precision medicine (e.g. diagnostics and prognostics), genome interpretation, raw data processing and secure high performance computing.
Capstone thesis submitted for undergraduate studies on the utility of genomic surveying tools in improving sudden cardiac arrest risk stratification and prediction of sudden cardiac death.
TCGC The Clinical Genome Conference 2015Nicole Proulx
Bio-IT World and Cambridge Healthtech Institute are again proud to host the Fourth Annual TCGC: The Clinical Genome Conference, inviting stakeholders impacting clinical genomics to share new findings and solutions for advancing the applications of clinical genome medicine.
The Foundation of P4 Medicine Keynote Presentation as presented by Leroy Hood, M.D., PhD, at the Ohio State University Personalized Health Care National Conference 2010.
Gene therapy advanced treatments for a new era aranca special reportAranca
Aranca's Report on Gene Therapy - a promising tool for Cancer, Parkinson's, HIV, severe combined immuno-deficiencies, hemophilia etc. In this report, you will discover the challenges associated with Gene Therapy as well as its expected future.
P4 Medicine: A Vision For Your Molecular HealthSachin Rawat
Medicine is undergoing tremendous change. Unlike today, medicine of tomorrow would be pro-active rather than reactive.Medicine would be personalized to individual patient's genome. It would predict, and hence prevent, diseases even before they manifest. Also, this medicine would require active societal participation to bring it from labs to clinics.
Gene therapy involves the insertion of a functioning gene into cells to correct a cellular dysfunction
KEY WORDS : GENETICS, MUTATION , GENETIC ENGINEERING.
Computational challenges in precision medicine and genomicsGary Bader
Genomics is mapping complex data about human biology and promises major medical advances. In particular, genomics is enabling precision medicine, the use of a patient's genome and physiological state to improve therapeutic efficacy and outcome. However, routine use of genomics data in medical research is in its infancy, due mainly to the challenges of working with "Big data". These data are so complex and large that typical researchers are not able to cope with them. Collectively, these data require an understanding of many aspects of experimental biology and medicine to correctly process and interpret. Data size is also an issue, as individual researchers may need to handle tens of terabytes (genomes from a few hundred patients), which is challenging to download and store on typical workstations. To effectively support precision medicine, scientists from a wide range of disciplines, including computer science, must develop algorithms to improve precision medicine (e.g. diagnostics and prognostics), genome interpretation, raw data processing and secure high performance computing.
Capstone thesis submitted for undergraduate studies on the utility of genomic surveying tools in improving sudden cardiac arrest risk stratification and prediction of sudden cardiac death.
TCGC The Clinical Genome Conference 2015Nicole Proulx
Bio-IT World and Cambridge Healthtech Institute are again proud to host the Fourth Annual TCGC: The Clinical Genome Conference, inviting stakeholders impacting clinical genomics to share new findings and solutions for advancing the applications of clinical genome medicine.
The Foundation of P4 Medicine Keynote Presentation as presented by Leroy Hood, M.D., PhD, at the Ohio State University Personalized Health Care National Conference 2010.
Gene therapy advanced treatments for a new era aranca special reportAranca
Aranca's Report on Gene Therapy - a promising tool for Cancer, Parkinson's, HIV, severe combined immuno-deficiencies, hemophilia etc. In this report, you will discover the challenges associated with Gene Therapy as well as its expected future.
P4 Medicine: A Vision For Your Molecular HealthSachin Rawat
Medicine is undergoing tremendous change. Unlike today, medicine of tomorrow would be pro-active rather than reactive.Medicine would be personalized to individual patient's genome. It would predict, and hence prevent, diseases even before they manifest. Also, this medicine would require active societal participation to bring it from labs to clinics.
Gene therapy involves the insertion of a functioning gene into cells to correct a cellular dysfunction
KEY WORDS : GENETICS, MUTATION , GENETIC ENGINEERING.
Talented people can be forgiven for many things, great people particularly for everything. In the infographic below, we represented unusual behavior of famous writers that had surprised us the most. Check out related #BlogPost for more details http://essayseek.com/blog/infographic-the-craziest-tricks-of-famous-writers-2/#more-3930
This year's 3rd Annual TCGC: The Clinical Genome Conference, held June 10-12, 2014 in San Francisco, is a three-day event that weaves together the science of sequencing and the business of implementing genomics in the clinic. It uniquely illustrates the mutual influence of those areas and the need to therefore consider the needs, challenges and opportunities of both - from next-generation sequencing and variant interpretation to insurance reimbursement and electronic health records - throughout the entire research process.Learn more at http://www.clinicalgenomeconference.com
Next Generation Sequencing and its Applications in Medical Research - Frances...Sri Ambati
The so-called “next-generation” sequencing (NGS) technologies allows us, in a short time and in parallel, to sequence massive amounts of DNA, overcoming the limitations of the original Sanger sequencing methods used to sequence the first human genome. NGS technologies have had an enormous impact on biomedical research within a short time frame. This talk will give an overview of these applications with specific examples from Mendelian genomics and cancer research. #h2ony
Tools and Technology for Advancing Rare Disease Research and Drug DevelopmentCovance
This white paper discusses virtual mapping of natural histories, the application of predictive modeling to better understand comorbidities and disease progressions as well as linkage to longitudinal real-world data sets. The goal is to improve diagnosis of patients, improve the design and conducting of trials, and enable development of more treatment options for people living with rare diseases.
Tests That Use DNA from Mother’s Blood to Determine Sex of Fetus Often Effective and Genetic Analysis of Amniotic Fluid Shows Promise for Monitoring Fetal Development
Next Generation Dx Summit 2015 - Moving Assays to the ClinicJames Prudhomme
The Next Generation Dx Summit, entering its seventh year, brings together more than 800 diagnostics professionals from across the world, providing comprehensive programming and valuable networking opportunities. Spanning from clinical diagnostics to business strategy, this year’s expanded program encompasses predictive cancer biomarkers, companion diagnostics, infectious disease, point-of-care, pharmacy-based diagnostics, cell-free DNA, commercialization, cancer immunotherapy, and reimbursement. With widespread coverage of all the most relevant diagnostics topics, the Next Generation Dx Summit promises to be a must-attend event to hear the latest announcements and developments in this rapidly evolving field.
Seventh Annual Next Generation Dx SummitJaime Hodges
The Next Generation Dx Summit (www.nextgenerationdx.com), entering its seventh year, brings together more than 800 diagnostics professionals from across the world, providing comprehensive programming and valuable networking opportunities. Spanning from clinical diagnostics to business strategy, this year’s expanded program encompasses predictive cancer biomarkers, companion diagnostics, infectious disease, point-of-care, pharmacy-based diagnostics, cell-free DNA, commercialization, cancer immunotherapy, and reimbursement. With widespread coverage of all the most relevant diagnostics topics, the Next Generation Dx Summit promises to be a must-attend event to hear the latest announcements and developments in this rapidly evolving field.
NIH/Career Development Award Workshop
Leslie Raffel, MD
Associate Director and Cedars-Sinai Site Director
UCLA Clinical and Translational Science Institute
The word genome can refer specifically to the DNA in the nucleus of a cell, but it can also refer to the genome of organelles
that contain their own DNA. Additionally, the genome can include
non-chromosomal genetic elements - viruses, plasmids and transposons. When the genome of a sexually reproducing organism is
said to be sequenced, it is typically understood that one haploid set
of autosomes and one of each type of sex chromosome has been sequenced, which together describe the genomes of both sexes. The
term “genomic sequence” can include a mosaic of data collected
from the chromosomes of different individuals, so this sequence is
representative of the genetic material of a given species. The study
of the general properties of the genome, their evolution and the
connection with the phenotype is called genomics, and thus differs
from genetics, which in principle studies the properties of a single
gene or group of genes.
The Importance of Community Nursing Care.pdfAD Healthcare
NDIS and Community 24/7 Nursing Care is a specific type of support that may be provided under the NDIS for individuals with complex medical needs who require ongoing nursing care in a community setting, such as their home or a supported accommodation facility.
CHAPTER 1 SEMESTER V PREVENTIVE-PEDIATRICS.pdfSachin Sharma
This content provides an overview of preventive pediatrics. It defines preventive pediatrics as preventing disease and promoting children's physical, mental, and social well-being to achieve positive health. It discusses antenatal, postnatal, and social preventive pediatrics. It also covers various child health programs like immunization, breastfeeding, ICDS, and the roles of organizations like WHO, UNICEF, and nurses in preventive pediatrics.
COVID-19 PCR tests remain a critical component of safe and responsible travel in 2024. They ensure compliance with international travel regulations, help detect and control the spread of new variants, protect vulnerable populations, and provide peace of mind. As we continue to navigate the complexities of global travel during the pandemic, PCR testing stands as a key measure to keep everyone safe and healthy. Whether you are planning a business trip, a family vacation, or an international adventure, incorporating PCR testing into your travel plans is a prudent and necessary step. Visit us at https://www.globaltravelclinics.com/
Navigating Challenges: Mental Health, Legislation, and the Prison System in B...Guillermo Rivera
This conference will delve into the intricate intersections between mental health, legal frameworks, and the prison system in Bolivia. It aims to provide a comprehensive overview of the current challenges faced by mental health professionals working within the legislative and correctional landscapes. Topics of discussion will include the prevalence and impact of mental health issues among the incarcerated population, the effectiveness of existing mental health policies and legislation, and potential reforms to enhance the mental health support system within prisons.
Empowering ACOs: Leveraging Quality Management Tools for MIPS and BeyondHealth Catalyst
Join us as we delve into the crucial realm of quality reporting for MSSP (Medicare Shared Savings Program) Accountable Care Organizations (ACOs).
In this session, we will explore how a robust quality management solution can empower your organization to meet regulatory requirements and improve processes for MIPS reporting and internal quality programs. Learn how our MeasureAble application enables compliance and fosters continuous improvement.
Deep Leg Vein Thrombosis (DVT): Meaning, Causes, Symptoms, Treatment, and Mor...The Lifesciences Magazine
Deep Leg Vein Thrombosis occurs when a blood clot forms in one or more of the deep veins in the legs. These clots can impede blood flow, leading to severe complications.
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1. REMOTE DELIVERY OF GENOMIC
INFORMATION & GENETIC
COUNSELING:
A NEW DISCIPLINE IN
TELEMEDICINE?
SHRIKANT MANE, PHD
DIRECTOR, YALE CENTER FOR GENOME
ANALYSIS
PETROS TSIPOURAS, MD
DEPARTMENT OF GENETICS
YALE UNIVERSITY
2. GENETIC DIAGNOSIS BY WHOLE
EXOME CAPTURE AND MASSIVELY
PARALLEL DNA SEQUENCING:
CHOI ET AL. PNAS: 2009
First report on making a clinical diagnosis using, whole exome capture
and next-generation high throughput DNA sequencing
• 5 month child
presented with failure
to thrive & dehydration
• Treatments for kidney
disease failed
STAS Cl/HCO3
exchanger
• DNA samples were collected and prepared for sequencing
• Identified homozygous missense D652N mutation at a position in
SLC26A3 gene that is known to be associated with congenital chloride
diarrheas.
3. YALE CENTER FOR GENOME ANALYSIS
3
Established in January 2010
11 Illumina HiSeqs, Pacific Biosciences, PGM and Ion Proton
Dell Cluster with 200 nodes/2500 cores and 3 Petabytes storage
25 Full time staff ( 7 PhDs, 2 MDs, 5 with MS degrees)
4. Select publications resulting from Next-Generation Sequencing at
YCGA
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Bilguvar and
Gunel
Nature, v467, 2010
A Novel miRNA Processing Pathway Independent of Dicer Requires Argonaute2 Catalytic Activity. Cifuentes
and Giraldez
Science, v328, 2010
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Choate K Science, v330, 2010
Transcriptomic analysis of avian digits reveals conserved and derived digit identities in birds. Wang et al Nature, v477, 2011
Transposom-mediated rewiring of gene regulatory networks contributed to the evolution of pregnancy in
mammals. Lynch and Wagner
Nature, Genet. v43, 2011
+
K
channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Choi M Science, v331, 2011
Recessive LAMC3 mutations cause malformations of occipital cortical development. Barak and Gunel. Nat Genet., V43, 2011
Spatio-temporal transcriptome of the human brain. Kang and Sestan Nature, v478, 2011
Langerhans cells facilitate epithelial DNA damage and squamous cell carcinoma. Modi and Girardi Science, v335, 2012
Mutations in kelch-like 3 and cullin 3 causes hypertension and electrolyte abnormalities. Boyden et al Nature, v482, 2012
De novo point mutations, revealed by whole-exome sequencing, are strongly associated with Autism Spectrum
Nature, v485, 2012
Disorders. Sanders and State
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Krauthammer Nat Genet., V44, 2012
Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO. Clark and
Science, v339, 2013
Gunel
De novo mutations in histone-modifying genes in congenital heart disease. Zaidi and Lifton Nature, v498, 2013
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Lemaire and Lifton Nat Genet., V45, 2013
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary
aldosteronism. Scholl and Lifton
Nat Genet., V45, 2013
The evolution of lineage-specific regulatory activities in the human embryonic limb. Cotney and Noonan Cell, v154, 2013
Mutations in DSTYK and dominant urinary tract malformations. Sanna-Cherchi and Gharavi N Eng J Med., 2013
Nanog, Pou5f1 and SoxB1 activate zygotic gene expression during the maternal-to-zygotic transition. Lee and
Nature, 2013
Giraldez
Co-expression networks implicate human mid-fetal deep cortical projection neurons in the pathogenesis of
autism. Willsey and State
Cell, 2013 (In press)
5. CLINICAL USES OF GENOME
SEQUENCING
Cancer: sequence tumors to guide initial Rx and Rx of recurrent disease
Inherited susceptibilities
Solve clinical mysteries
Newborn screening?
Genome sequencing at birth?
YCGA is carrying out clinical diagnostic work in collaboration with Dr. Allen Bale
Over 700 exomes are analyzed for various disorders
6. GENETIC TESTING: COUNSELORS
WIDELY NEEDED
2014 marks the first time when demand for genetic counselors outstripped supply in the
United States. The quick spread of genetic testing is accelerating this need and creating
pressure for scalable solutions.
6
7. WHAT IS GENETIC COUNSELING?
“Genetic counseling is the process of helping people
understand and adapt to the medical, psychological,
and familial implications of genetic contribution to
disease. This process integrates the following:
Interpretation of family and medical histories to assess
the chance of disease occurrence or recurrence.
Education about inheritance, testing, management,
prevention, resources and research. Counseling to
promote informed choices and adaptation to the risk or
condition.”
National Society of Genetic Counselors’ Definition Task Force
J. Genet Couns 2006,15, 77-83
7
8. CURRENT EXAMPLES OF REMOTE GENETIC
COUNSELING
Phone counseling sessions
8
Video counseling sessions
Strand remote counseling and sample collection room
at the Mazumdar Shaw Medical Center
9. BUILDING A SCALABLE SOLUTION
Research on the use of an interactive computer program prior to
genetic counseling showed the combination to be more effective than
standard genetic counseling for increasing knowledge of genetic
testing
Resulted in significantly shorter counseling sessions
Shifted the focus of counseling session away from basic
education toward personal risk and decision-making
9
Green, M. J., Peterson, S. K., Baker, M. W., Harper, G. R., Friedman, L. C., Rubinstein, W.S., & Mauger, D.
T. (2004). Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic
testing for breast cancer susceptibility. Journal of the American Medical Association, 292(4), 442-452.
10. ENHANCING COUNSELING EFFICIENCY
10
Consenting
Counseling
Session
Family History
Communicatin
g Next Steps
Setting
Expectations
Interpreting
Results
Prime areas for
technological
disruption short-term
Future automation
goal
11. BUILDING A COMPREHENSIVE
SOLUTION
11
Physician
refers
patient to
platform
and
authorizes
lab to
process
sample
Patient
gains
access to
tracking
information,
educational
materials
and
counseling
tools
Lab
processes
sample and
updates its
progress to
all
stakeholder
s
Genetic
Report is
generated
and sent to
physician,
who
engages
counselor
for patient
Genetic
Counselor
can access
patient
information
and focus
session on
dynamic
decision-making
process
12. BUILDING A ROBUST SOLUTION
Physician
Links patient medical
information
Refers the patient into
portal
Can connect directly
to lab and counselors
Receives genetic
report
Can access continuing
education materials
12
13. BUILDING A ROBUST SOLUTION
13
Patient
Creates personal profile
and family history
Can access personalized
educational materials
Makes expectations
explicit and signs consents
Access to scheduling tools
Connects with a genetic
counselor
14. BUILDING A ROBUST SOLUTION
14
Genetic
Counselor
Reviews patient information,
family history and lab report
Works with physician on
patient plan
Engages patient on what
the information means
Provides guidance on
appropriate next steps
Share and access database
of best practices
15. DEVELOPMENT PLAN
15
Technology
Infrastructure
Content
Development
Logistics
Management
User Testing
16. PLATFORM BENEFITS
Technology can be licensed
and used by multiple
stakeholders
Library of content forms basis
of sustainable competitive
advantage
Network effects create
incentives for continued use by
physicians and patients
16
17. THE FUTURE
Complete automation through an intelligent system
17
Physician
refers
patient to
platform
and
authorizes
lab to
process
sample
Patient
gains
access to
tracking
information,
educational
materials
and
counseling
tools
Lab
processes
sample and
updates its
progress to
all
stakeholder
s
Genetic
Report is
generated
and sent to
physician,
who
releases
information
to patients
in online
system
Sophisticate
d and
robust
algorithms
guide the
patients
through
results and
actionable
next steps
18. PARTNERS/COLLABORATORS
Krishnan Ganapathy, MD
18
Petros Tsipouras, MD
Shrikant Mane, PhD
Michael Krauthammer, MD, PhD
Paddaiah Gangisetti, PhD
Elissa Levin, MS
Eric Schadt, PhD
Vijay Chandru, PhD
Priscila Bala, MBA
Editor's Notes
recessive loss of function mutations in this gene are known to cause congenital chloride-losing diarrhea [CLD; i.e., OMIM 214700 (21)] in humans and mice (22). The D652N mutation lies in a β-pleated sheet in the STAS domain (Sulfate Transporters and bacterial Anti-Sigma factor antagonists) of the protein (Fig. 3E), which is known to be required for both the activity and biosynthesis/stability of the transporter. Indeed, other mutations at conserved positions in the STAS domain have been shown to cause congenital chloride diarrhea (23). This mutation was absent among 190 control chromosomes.
In 2012, the Bureau of Labor Statistics predicted growth of 41% in the field by 2022.
As individual genetic makeup increasingly determines medical treatment in conditions from cardiovascular disease to cancer, the demand for experts is on the rise