The Essentials of Diagnostics

Diagnostics: healthcares true foundation

Diagnostics represent the foundation of a successful healthcare system, providing the critical information physicians need to make the best decisions for a patients care. Diagnostics provide objective, quantitative evidence for the presence or absence of a disease, and the clinically optimal course of action. An accurate diagnosis empowers a physician to create a patient-focused treatment plan, and effectively monitor a diseases response or progression. As a result, diagnostics are both under- and overutilized, physicians are not incentivized to use adequate diagnostics, and current reimbursement structures fail to reflect the true medical value of the information provided.

Solution: education, advocacy, and action

The critical need for education about the power and impact among diagnostics has led to a revolutionary alliance of the diagnostics community. Diagnostic test creators, instrument manufacturers, supply manufacturers, service providers, researchers, laboratories and others have joined together to create Diagnostic Insights in order to illuminate providers, policymakers, payers, investors, and patients about the important capabilities of diagnostics available today, and the promise of an even greater future.

Challenge: stakeholders do not recognize the power of diagnostics

The challenge is that too few stakeholders understand the power of fully informed diagnostics. Therefore: Too few physicians are totally confident in todays diagnostic tools Too few policymakers fully appreciate the impact of diagnostics Too few payers consider diagnostics money well spent

Diagnostic Insights Mission

Diagnostic Insights mission is to fuel value-driven diagnostic reform through data-driven education and guidance of physicians and payers.

The Value of Diagnostics

Dx

Medicial Value

Dx

Diagnostics are: <2% total worldwide healthcare spend

Diagnostics influence: >60% of critical decision making

Diagnostics: healthcares critical core

How to avert an American healthcare crisis
The American healthcare system operates on the precipice of a catastrophic economic burden. A rapidly aging population and widespread inability to eliminate trialand-error medicine and manage costs comprise this burdens alarming weight. High-value diagnostics can bridge the gap between the need and the solution, but we must first strengthen its foundation. 1. Limited funding for innovation The venture capital and private equity sectors are hesitant to invest in small companies that develop precision diagnostics and technologies, even though these organizations engender significant innovation. Often, the long-term success of these companies relies upon their acquisition by a large firm. 2. Ambiguous healthcare regulation The future approval pathway for diagnostics and companion diagnostics is unclear, making clinical success very challenging. Investors regard this uncertainty with trepidation and hesitate to invest in diagnostic innovations. 3. Insufficient reimbursement Payers must be convinced of the medical value that diagnostic technologies bring to patient outcomes. Without adequate reimbursement, the entire value chain, stemming from early innovation, collapses. Policy makers must also be made to understand the importance of incentivizing innovators and investors, to feed the innovation pipeline and ensure corporate growth. 4. Slow market adoption Physicians must be educated to put their trust and confidence in diagnostic technologies that demonstrate potential to advance patient care. Education is paramount to accelerate market adoption of these valuable technologies.

Why diagnostic precision is vital to physical and economic health

Diagnostics the identification and classification of human disease or wellbeing is the fundamental practice healthcare providers employ to decipher a patients health. The diagnostic field deeply impacts our economy on a national scale as scientific and technological advancements significantly expand our capacity to create real economic gains in higher production, fewer unnecessary costly treatments and procedures, and overall improved patient outcomes.

Four barriers to adoption

To persuade stakeholders to adopt value-driven diagnostics into the healthcare value chain, we must educate to overcome the inertia around four key barriers:

Impact of Diagnostics: Bridge from

Solid Tumors

to Cure
Curable

Personalized Medicine: Targeted biologics, chemotherapy, and radiation

Dx: Precision Diagnostics

Antiviral HIV/AIDS

erapies
Curable

Dx: Viral Load & Genotyping

Heart Disease Chemotherapy

Statins
Curable

Dx: Biomarkers

Blood Cancers Antibiotics

Curable

Curable

Dx: Disease Characterization

Infectious Disease

Dx: Bacteria Characterization

1950

1960

1970

1980

1990

2000

Today

Copyright 2011 Aspinall. Do not Distribute or Reproduce

Discover the meaning & power of precision diagnostics

Diagnostics comprise an array of diversified technologies that address all disease states and populations, encompassing a wide spectrum of disciplines from imaging technologies such as MRIs to quantitative and qualitative molecular diagnostics. Because they are highly diverse and flexible, diagnostics play a critical role in helping physicians better utilize and personalize the drugs and procedures available to them.

Diagnostics
In Vitro Diagnostic Tests Tests that assess health status inside of the body or measure body functions by testing samples taken from inside the body Examples: Pregnancy test Blood chemistry Cholesterol test Glucose moritoring PSA test Pap smear InVivo Diagnostic Tests Tests that assess health status inside of the body or measure body functions by testing outside of the body Examples: X-ray Temperature Blood pressure screening Ultrsound MRI Heart rate monitor

Two diagnostic categories

There are two fundamentally different types of diagnostic tests: in vitro, measuring something inside the body; and in vivo, measuring something outside the body.

Six diagnostic applications

In vitro and in vivo diagnostics inform six different clinical applications risk assessment, screening, diagnosis, staging and prognosis, therapy selection, and monitoring as detailed below:

Risk Assessment Description Diagnostic test to complement traditional risk factors Clinical Implement Implications wellness programs proactively

Screening

Diagnosis

Staging and Prognosis Assess severity and/or risk of recurrence

Therapy Selection

Monitoring

Applied to Used for high-risk definitive patients diagnosis and to identify general cancer disease early typing Nip disease in the bud with early treatment Refer to the appropriate specialist

Used to predict Recurrence efficacy or monitoring safetly response Monitoring Inform adjuvant to specific for treatment treatmetns chemo decision efficacy Determine whether treatment is necessary Do not waste unproductive therapy Control disease progression with changes in treatment

In vitro diagnostics (IVD)

The in vitro diagnostics market has rapidly evolved as diagnostic developers have harnessed the latest scientific advancements to move from rough qualitative measurements to highly specific molecular disease markers. Laboratories performing in vitro diagnostics

run protocols embedded in easy-to-use automated systems that measure proteins, cells, DNA, or RNA molecules. As technology has evolved, researchers have developed diagnostics to deliver precise answers that directly impact clinical outcomes. HIV is an extraordinary example of in vitro diagnostic 3

evolution over a 30-year period. Upon delivering a diagnosis, a patients doctor must choose from over 20 different antiretroviral agents, representing 6 unique drug classes. Advanced molecular techniques are now used to predict how individual patients will respond to specific therapies, thus increasing the odds of survival. After beginning antiretroviral therapy (ART), patients are routinely monitored with standard and ultrasensitive blood tests every 34 months to assess viral load and confirm ongoing viral suppression. This new standard of care has extended the overall quality of life and the average life expectancy of newly diagnosed HIV patients by 2025 years. As the diagnostics industry continues to advance, better detection and testing mechanisms empower the medical community to reduce HIVs impact on public health.

HIV: A Progression in Diagnosis and Treatment

1981 Official beginning of the HIV/AIDS epidemic with the MMWR report of 5 cases of PCP 1985 First HIV antibody test licensed by FDA detects antibodies to HIV and aids in diagnosis 2011 The first over the counter (OTC) HIV test being reviewed by the FDA 2007 Trofile launched, a companion diagnosic to the drug Seizentry, indicated for patients infected with CCR5-tropic HIV

1994 FDA approves first oral test for diagnosis of HIV

1980
1983-84 Isolation of virus

1990

2000
1996 FDA approves first viral load testing that measures HIV in the blood, specifically the number of copies of viral RNA per one mL of blood

2010
HIV diagnostics now span entire spectrum of disease management, from screening to diagnosis to treatment selection to monitoring

1992 FDA licenses first rapid HIV test for diagnosis of HIV

AMA recommends resistance testing to help determine a patients initial adtiretroviral regimen only if there are factors that indicate an increased risk for resistance

In vivo diagnostics
In vivo diagnostics support a broad spectrum of healthcare activities, from taking a patients vital signs to imaging and monitoring solid tumors. In vivo diagnostics provide physicians with a relatively non-invasive way to obtain information about an individuals condition. While some in vivo diagnostics continue to support the fundamentals of patient care, others are accelerating to provide exciting insights to previously unexplained conditions, including a host of neurological disorders. The high societal and economic cost of such conditions create a heightened sense of urgency around the development and adoption of these diagnostics. Functional Magnetic Resonance Imaging (fMRI) is a notable example of in vivo diagnostic advancement. fMRI is a technique that leverages traditional MRI technology

to visualize blood flow in the brain in order to detect and measure areas of activity. MRI itself was developed from the Nobel-prize winning work of two American researchers specializing in nuclear magnetic resonance (NMR). Over the last decade, fMRI has become the preferred diagnostic method to determine how normal, diseased, or injured brains are functioning. 1 This technology has contributed to our preliminary understanding of critical brain functions including thought, speech, movement, and sensation by enabling us to determine which parts of the brain are responsible for them. fMRI is also used in clinical settings to assess the potential risks of surgery and other invasive brain treatments. Physicians perform fMRI to help assess the effects of stroke, trauma, or degenerative diseases (such as Alzheimers) on brain function. It is also employed to monitor the growth and function of brain tumors, and 4

the impact of radiation therapy and other surgical brain treatments. Given the staggering global scale and toll that brain disorders represent, it is critical that we pursue further advancements and innovations in this field. Today, researchers are harnessing the latest developments in genomics, proteomics, epigenetics, and metabolomics to develop advanced tests that utilize both in vitro and in vivo technologies. The combined power of these diagnostics will give providers unprecedented access to precise, personal information about a patients health, reducing healthcare costs and improving clinical outcomes.

provide a suite of diagnostic services to support clinical decision-making. Over 5,000 independent clinical laboratories exist in the US, with Quest Diagnostics and LabCorp accounting for nearly half of independent clinical lab revenues.5 2. Diagnostic innovators Diagnostic innovators are largely early-stage companies using cutting-edge technologies and research to solve new problems in diagnostics. Innovators of molecular diagnostics, protein diagnostics, sequencing techniques, nanotechnology, and algorithm development comprise this segment (e.g. Aureon Biosciences, Genomic Health, Sequenom, T2 Biosystems). 3. IVD companies IVD companies are generally more established than diagnostic innovators and engage more actively with providers, labs, or consumers. IVD companies include those involved in point-of-care diagnostics, clinical chemistry, immunodiagnostics, molecular diagnostics, hematology, and urinalysis (e.g. Abbott, Danaher/ Beckman, GenProbe, Roche Diagnostics). 4. Imaging companies Imaging companies include those specializing in CT, MRI, Molecular Imaging, Ultrasound, and X-Ray (e.g. Hologic, GE Healthcare, Philips, Siemens). 5. Life science tools developers Life science tools companies provide the platforms, content, or services to accelerate scientific advancement, and support the research, development, and production of diagnostics (e.g. Illumina, Life Technologies, PerkinElmer, Qiagen).

Five heavy hitters every healthcare professional should know

A myriad of diagnostic innovations are being developed in companies as dynamic and varied as the technologies they produce. The diagnostics industry can be segmented into five major groups, including clinical laboratories, diagnostic innovators, IVD companies, imaging companies, and life science tools developers. The most current comprehensive study of the global diagnostics industry estimates its worth at over $166 billion, with approximately $50 billion in products and platforms alone. 2 The majority of dollars remaining is spent on reference and hospital laboratory services worldwide. Growth projections suggest a total industry size of approximately $500 billion by 2018.3 The five players below supply over 500 thousand jobs in the US, in the laboratory services, diagnostic manufacturing and innovation sectors.4 1. Clinical laboratories Clinical laboratories include independent clinical labs, hospital labs, and physician-office labs that

US Employment in the Diagnostics Industry

328,100 employees 56%

256,507 employees 44%

Diagnostics Development/Innovation Laboratory Services, including

Laboratory Technologists & Technicians

Why stakeholders should invest in diagnostic innovation

Diagnostic innovation creates companies and jobs
Diagnostics innovation is a catalyst for company creation and corporate growth, creating a labor force rich in intellectual capital. A search of the FDAs medical device database for approved in vitro diagnostic devices reveals over 500 new product approvals from 68 unique firms since 2006, strongly affirming that the innovation engine is humming.6

Proof positive: the human genome project

The economic and functional impact generated by the Human Genome Project alone is enormously significant. From 1988 to 2003, the federal government invested approximately $3.8B in research funds to sequence the human genome. Battelle Memorial Institute estimates7 the economic impact to be a staggering $796B. Even more powerful data is detailed below.

Between 1988 and 2010 the human genome sequencing projects and associated research and industry activity directly and indirectly generated U.S. economic output Personal income for Americans Employment opportunities $796B in U.S. economic output $244B in personal income for Americans 3.8MM job-years of employment

In 2010 alone, the human genome sequencing projects and associated research and industry activity directly and indirectly generated: $67B in U.S. economic output $20B in personal income for Americans 310,000 jobs

Mergers and acquisitions: a success story

In addition to positive trends in diagnostic innovation, there has been a surge of mergers and acquisitions (M&A) activity in the diagnostics industry. From 2009 to 2010, the value of diagnostics-related M&A rose 57% to $4.7 billion. This dramatic increase in value was driven by factors such as the return of private equity, a restructuring of corporate business portfolios, new business models, and renewed interest in point-of-care testing. In 2011, the average value of a diagnostics M&A deal is expected to more than triple. This will make 2011 one of the strongest years for M&A value since 2004.

Future potential: know and navigate the path to success

Despite an impressive record of success and a host of capable, innovative companies to drive growth, the diagnostics industry must actively address ongoing mandates and challenges in order to thrive today and in the future. identify the treatment that is likely to be most effective, with the fewest unwanted side effects, and monitor and adjust that treatment to optimize health outcomes. For patients and their physicians, personalized medicine offers more efficient and effective care. Recent guidance issued by the FDA, coupled with payer concern over health expenditures, has motivated the pharmaceutical industry to actively seek diagnostic tools (i.e. companion diagnostics) to help determine which patients are most likely to benefit from particular drugs, even if this means shrinking their markets to targeted patients. Companion diagnostics complement targeted therapeutics to reduce side effects, improve efficacy, and help control healthcare costs. The number of companion diagnostics partnerships with pharmaceutical firms more than tripled in 2010 drop compared to 2008, and activity continued at an aggressive pace through 2011. Pharmaceutical and diagnostic players collaborating on companion diagnostics today demonstrate a strong commitment to the on-going shift towards personalized medicine. For example within a single month, the FDA gave priority review and approval of 1) a drug and gene mutation diagnostic to treat patients with late-stage melanoma and 2) review and approval of a drug and FISH-based diagnostic to treat patients with non-small cell lung cancer. While cancer is still the primary area of focus, the industry is now also evaluating other areas of disease, such as diabetes, cardiovascular, infectious disease, and auto-immune; all indications of high clinical and economic cost burdens. Additionally, though stakeholders have embraced companion diagnostics, the much larger volume of novel diagnostics not linked to a particular drug are facing ballooning expenses for research, development, sales and marketing in a more cost-contained world.9 More consolidation and collaboration is expected among companies trying to recoup costs and capture their fair share of value.

Cost containment and new care paradigms

In an environment of health reform and value-based purchasing, payers, providers, pharmaceuticals, and life sciences must respond to a resounding mandate: do more with less, do it better, share information, and work together. This is an enormous challenge. Life sciences and technologies are advancing at a dizzying pace, yet the healthcare system struggles to incorporate and reap the benefits from these advancements. Consumers are pushing for personalized, convenient, technology-enabled care. And governments and employers are demanding a shift away from volume-based service reimbursements toward payment for disease prevention and improved patient outcomes. Healthcare reform and new care paradigms, like accountable care organizations and patients-centered medical homes, have opened up important avenues for preventative and predictive diagnostics. In the future, patient care will be customized to individual patients as performance metrics, payments, outcomes, incentives, services and treatments address the unique needs and preferences of individuals.8

Personalized medicine
The promise of personalized medicine is the right treatment, for the right patient, at the right time. In order to deliver on this promise, a robust diagnostics industry must provide the information necessary for physicians and patients to determine, in concert, which treatment will be most beneficial to the patient. Personalized diagnostics can accurately diagnose a disease at its outset,

Preventative medicine, wellness, and early detection

In an ideal setting, the healthcare community would shift from treating disease to preventing disease and promoting wellness. In light of the national and global burden of chronic disease, this shift is imperative to the survival of our healthcare system. Chronic disease - such as heart disease, cancer and diabetes - is currently the leading cause of death and disability in the US and accounts for 70% of all deaths, or 1.7 million deaths, each year.10 On a global scale, the most recent estimate puts the annual death toll related to chronic disease at 52 million, with a cumulative cost of $47 trillion by 2030.11 Preventative medicine and the promotion/practice of wellness stand as powerful opportunities to lighten the burden of these unsustainable costs by preventing or delaying the onset of chronic disease.

Positioning the industry for future success means ensuring that industry and policy stakeholders understand the value of diagnostics, the science behind diagnostics, and the benefit of using diagnostics to their fullest advantage. Creating a platform to establish and support this understanding will enable important innovations in patient care. This is Diagnostic Insights goal for the industry.

About Diagnostic Insights

Diagnostic Insights was founded by industry executives Mara Aspinall from Ventana/Roche, Kristin Pothier from Health Advances, Hathaway Russell from Foley Hoag, and Terri Clevenger from Continuum Health. Why what we do is important We founded Diagnostic Insights because we identified the critical need for a non-lobbying organization devoted to educating stakeholders on the positive impact precision diagnostics can have on patient outcomes in our nations healthcare communities. For more information, please visit our website at diagnosticinsights.com

Precision diagnostics: the cliff notes

For decades, the diagnostic industry has been a cornerstone for improving healthcare. At a time when our healthcare infrastructure is changing dramatically, it is most critical that diagnostic technologies continue to evolve and remain a valued part of our care model.

References, etc. to come in this section.

1. Pothier, K; Gustavsen, G, Philips, K. Reimbursement Landscape for Novel Diagnostics: Current Limitations, Real-world Impact, Proposed solutions. Biotechnology Industry Organization, January 2011. 2. Radiological Society of North America and American College of Radiology. Functional MR Imaging - Brain Retrieved October 4, 2011, from radiologyinfo.org/en/info.cfm?pg=fmribrain 3. Sources: Boston Biomedical Consultants; IMS Health (3/20/07 press release); William Blair and Company; Easton Associates LLC 4. Based on a 12-year forecast of average 9.6% annual growth. A total of five separate annual growth claims were averaged across industry segments and ranged from 6% to 17.1%. 5. census.gov/econ/industry/def/d325413.htm 6. First Research Medical & Imaging Laboratories (March 2010), IBISWorld Diagnostic & Medical Laboratories (March 2010).

7. A keyword search for the term diagnostic was performed using the medical device search engine at: accessdata.fda.gov/scripts/cdrh/cfdocs/cfivd/index.cfm 8. Battelle Memorial Institute. Economic Impact of the Human Genome Project 2011 White Paper. battelle.org/publications/humangenomeproject.pdf 9. PwC, HealthCast: The Customization of diagnosis, care and cure. March 2010. 10. Pothier, K; Gustavsen, G, Philips, K. Reimbursement Landscape for Novel Diagnostics: Current Limitations, Real-world Impact, Proposed solutions. Biotechnology Industry Organization, January 2011. 11. Centers for Disease and Control Prevention. Chronic Disease Prevention and Health Promotion cdc.gov/chronicdisease/index.htm 12. Reuters. Chronic Disease to cost $47 Trillion by 2030: WEF. reuters.com/article/2011/09/18/us-diseasechronic-costs-idUSTRE78H2IY20110918

Appendix
case studies

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Case studies
The diagnostics industrys products and services are founded on in-depth research, clinical trials, and scientific publications. Each year, billions of dollars are spent on research to create new diagnostic solutions and unveil the clinical and economic evidence to support their adoption.

The table below contains live links to a sampling of pioneering, peer-reviewed, scientific and clinical literature highlighting novel diagnostic technologies and services. These references provide a starting point for anyone interested in understanding more about the impact of diagnostics on patient care paradigms over time.

Company & Website Allegro Dx

Publication Reference & Topic

Spira, A., Beane, J. E., Shah, V., Steiling, K., Liu, G., Schembri, F., Gilman, S., et al. (2007). Airway epithelial gene expression in the diagnostic evaluation of smokers with suspect lung cancer. Nature medicine, 13(3), 361-6. Test to determine smokers who are least likely to progress

Key Quotations
Our data suggest that combining cytopathology with the gene-expression biomarker for lung cancer resulted in a 95% negative predictive value, potentially allowing these individuals to be followed non-aggressively with serial imaging studies. Compared to bronchoscopy alone, the strong negative predictive value of the combined cytopathology and gene-expression biomarker test should substantially reduce the number of individuals requiring further invasive diagnostic testing. Morphometry reliably classifies Gleason pattern 3 tumors. When combined with biomarker data, it adds to the hematoxylin and eosin analysis, and prostate specific antigen values currently used to assess outcome at diagno- sis. Biopsy androgen receptor levels predict the likelihood of a response to therapy after recurrence and may guide future treatment decisions.

allegrodx.com

Aureon Biosciences, Inc.

Donovan, M. J., Khan, F. M., Fernandez, G., Mesa-Tejada, R., Sapir, M., Zubek, V. B., Powell, D., et al. (2009). Personalized prediction of tumor response and cancer progression on prostate needle biopsy. The Journal of urology, 182(1), 12532. American Urological Association. Test to predict likelihood of disease progression at diagnosis in prostate cancer patients Ward, K., Ogilvie, J. W., Singleton, M. V., Chettier, R., Engler, G., & Nelson, L. M. (2010). Validation of DNA-Based Prognostic Testing to Predict Spinal Curve Progression in Adolescent Idiopathic Scoliosis. Spine, 35(25), 1455-1464

aureon.com

Axial Biotech

Clinical features do not adequately predict which children diagnosed with minimal or mild AIS will have the progressive form of the disease; genetic markers associated with curve progression might offer clinically useful prognostic insights. Prognostic testing for AIS has the potential to reduce psychological trauma, serial exposure to diagnostic radiation, unnecessary treatments, and direct and indirect costs-of-care related to scoliosis monitoring low-risk patients. Further improvements in test performance are expected as the optimal markers for each locus are identified and the underlying biologic pathways are better understood.

axialbiotech.com

Test to predict progression of scoliosis in adolescents

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Company & Website Boston Heart Lab

Publication Reference & Topic

Asztalos, B. F., Cupples, L. A., Demissie, S., Horvath, K. V., Cox, C. E., Batista, M. C., & Schaefer, E. J. (2004). High-density lipoprotein subpopulation profile and coronary heart disease prevalence in male participants of the Framingham Offspring Study. Arteriosclerosis, thrombosis, and vascular biology, 24(11), 2181-7. Test for Chronic Heart Disease risk

Key Quotations
We conclude that the measurement of HDL subpopulations provides useful information about CHD risk beyond that obtained from traditional CHD risk factors, especially in subjects with normal LDL cholesterol and TG levels.

bostoheartlab. com

Cardio Dx

Rosenberg, S., Elashoff, M. R., Beineke, P., Daniels, S. E., Wingrove, J. A., Tingley, W. G., Sager, P. T., et al. (2010). Original Research Multicenter Validation of the Diagnostic Accuracy of a Blood-Based Gene Expression Test for Assessing Obstructive Coronary Artery Disease in Nondiabetic Patients. Annals of Internal Medicine. Validation of 23-gene, expression- based classification test for diagnosis of obstructive CAD in non- diabetic patients C. F. Allaart, L. Dirven, S. Hirata, P. J. Kerstens, B. A. Dijkmans, D. Chernoff, G. Cavet, et al. A Multi-Biomarker Algorithm For RA Disease Activity (Vectr aTM DA Algorithm) Predicts Radiographic Progression in the Best Study. Poster presented at the EULAR Annual European Congress of Rheumatology meeting held May 25-28, 2011; London, UK. Multi-biomarker blood test to help predict progressive joint damage in RA patients and track changes in disease activity in response to effective therapy

A noninvasive whole-blood test based on gene expression and demographic characteristics may be useful for assessing obstructive CAD in nondiabetic patients without known CAD.

cardiodx.com

Crescendo

A pre-defined, multi-biomarker algorithm for RA disease activity can also predict joint damage progression, suggesting that the combination of biomarkers accurately reflects underlying disease processes. In addition to evaluating current disease activity, the MBDA score can track changes over time, and may complement clinical assessment for managing RA.

crescendobio. com

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Company & Website Genomic Health

Publication Reference & Topic

Lo, S. S., Mumby, P. B., Norton, J., Rychlik, K., Smerage, J., Kash, J., Chew, H. K., et al. (2010). Prospective multicenter study of the impact of the 21-gene recurrence score assay on medical oncologist and patient adjuvant breast cancer treatment selection. Journal of clinical oncology: official journal of the American Society of Clinical Oncology, 28(10), 1671-6. Prospective evaluation of 21 gene assay predicting breast cancer recurrence to determine changes in oncologist treatment recommendations

Key Quotations
The results of this study indicate that the RS assay impacts medical oncologist adjuvant treatment recommendations, patient treatment choice, and patient anxiety

genomichealth. com

Nodality

Covey, T. M., Putta, S., & Cesano, A. (2010). Single cell network profiling (SCNP): mapping drug and target interactions. Assay and drug development technologies, 8(3), 321-43. doi:10.1089/ adt.2009.0251 Application of single cell network profiling (SCNP) in different phases of drug development.

nodality.com

These studies show that SCNP can be used to efficiently measure a drug candidates potency and selectivity in a physiologically relevant environment (eg, whole blood) and that robust IC(50) are attainable from rare subpopulations (<100 cells). The ability to generate in vitro IC(50) measurements in whole blood can be used not only for the preclinical selection of lead molecules, but also to determine the target plasma concentration for clinical studies and to measure target coverage after drug administration in early phase clinical trials. For women aged 30 years and older in routine clinical practice who are negative by co-testing (both HPV and cytology), 3-year screening intervals were safe because a single negative test for HPV was sufficient to reassure against cervical cancer over 5 years. Incorporating HPV testing with cytology also resulted in earlier identification of women at high risk f cervical cancer, especially adenocarcinoma. Testing for HPV without adjunctive cytology might be sufficiently sensitive for primary screening for cervical cancer.

Qiagen

Katki, H. a, Kinney, W. K., Fetterman, B., Lorey, T., Poitras, N. E., Cheung, L., Demuth, F., et al. (2011). Cervical cancer risk for women undergoing concurrent testing for human papillomavirus and cervical cytology: a populationbased study in routine clinical practice. The lancet oncology, 2045(11), 1-10. doi:10.1016/S14702045(11)70145-0 Concurrent testing for human papillomavirus (HPV) and cervical cytology (co-testing)

qiagen.com

T2 Biosystems
t2biosystems.com

Shao, H., Yoon, T.-J., Liong, M., Weissleder, R., & Lee, H. (2010). Magnetic nanoparticles for biomedical NMR-based diagnostics. Beilstein Journal of Nanotechnology, 1, 142-154. Review on the use of magnetic nanoparticles for in vitro detection of biomolecules and cells based on magnetic resonance effects

DMR technology is a highly attractive platform for portable, low-cost, and efficient biomolecular detection within a biomedical setting.

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Company & Website Tethys

Publication Reference & Topic

Kolberg, J. et al. Development of a Type 2 Diabetes Risk Model from a Panel of Serum Biomarkers from the Inter99 Cohort. Diabetes Care. 32(7):1207-1212 (2009). Test to predict risk for Type 2 diabetes Chudova, D., Wilde, J. I., Wang, E. T., Wang, H., Rabbee, N., Egidio, C. M., Reynolds, J., et al. (2010). Molecular classification of thyroid nodules using high-dimensionality genomic data. The Journal of clinical endocrinology and metabolism, 95(12), 5296-304. Test to classify indeterminate thyroid biopsies to determine those which are benign Pham, M. X., Teuteberg, J. J., Kfoury, A. G., Starling, R. C., Deng, M. C., Cappola, T. P., Kao, A., et al. (2010). Gene-expression profiling for rejection surveillance after cardiac transplantation. The New England journal of medicine, 362(20), 1890-900. Test to monitor for rejection in recipients of a cardiac transplant Michael E. Coulter, BA, David T. Miller, MD, PhD, David J. Harris, MD, Pamela Hawley, MS, Jonathan Picker, MD, PhD, Amy E. Roberts, MD, Magdi M. Sobeih, MD, PhD2,5, and Mira Irons, MD. Genetics in Medicine, Vol. 13, No.9; September 2011; 770776. Chromosomal microarray testing influences medical management

Key Quotations
A model incorporating six circulating biomarkers provides an objective and quantitative estimate of the 5-year risk of developing type 2 diabetes, performs better than single risk indicators and a noninvasive clinical model, and provides better stratification than fasting plasma glucose alone. In conclusion, we show cross-validated molecular test performance and validation on a modestsized independent validation set with high enough specificity to reclassify over half of indeterminate FNAs as benign, making the test clinically useful.

tethysbioscience.com

VeraCyte

veracyte.com

XDx

xdx.com

Among selected patients who had received a cardiac transplant more than 6 months previously and who were at a low risk for rejection, a strategy of monitoring for rejection that involved geneexpression profiling, as compared with routine biop- sies, was not associated with an increased risk of serious adverse outcomes and re- sulted in the performance of significantly fewer biopsies.

Among 1792 patients, 13.1% had clinically relevant results, either abnormal (n 131; 7.3%) or variants of possible significance (VPS; n 104; 5.8%). Abnormal variants generated a higher rate of recommendation for clinical action (54%) compared with VPS (34%; Fisher exact test, P 0.01). CMA results influenced medical care by precipitating medical referrals, diagnostic imaging, or specific laboratory testing. Conclusions: For all test indications, CMA results influenced medical management in a majority of patients with abnormal variants and a substantial proportion of those with VPS. These results support the use of CMA as a clinical diagnostic test that influences medical management for this patient population.

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