Category Archives: Genetic Medicine

Highlights

In the world of rare diseases, patient testimonies about the extreme difficulties of receiving an accurate diagnosis for an illness are numerous. For instance, one woman, sick for most of her young life, was not properly diagnosed with idiopathic gastroparesis an ultra-rare disease that affects stomach motility and digestion until late in college after seeing numerous different specialists in multiple fields and undergoing a battery of testing.1 Another patient, now active in the rare disease advocacy community, went undiagnosed with familial partial lipodystrophy a disease that, among other things, causes selective fatty tissue loss for 37 years.2

Unfortunately, these stories are not unique. One survey indicated that it took on average 7.6 years to properly diagnose a rare disease patient in the United States.3 Another study indicated that a rare disease patient on average consulted eight different physicians before landing on an accurate diagnosis, with only 12.9 percent of respondents indicating that they had seen only one physician prior to diagnosis (23.5 percent of respondents had seen between six and 10 physicians).4 Frequently, rare disease patients exhibit similar symptoms as other, more common diseases, making diagnosis complicated and leaving patients confused and frustrated about a path forward. Further complicating the situation is that traditional treatments for more common illnesses that mimic rare disease symptoms, such as irritable bowel syndrome in the case of the aforementioned gastroparesis patient, may actually worsen a patient's condition.

As such, the misdiagnosis of rare diseases, in addition to being traumatic for patients and their families, can be extremely expensive. One study indicated that over a 10-year period, an undiagnosed rare disease patient cost over 100 percent more than the average patient. This was due in part to a significant increase in outpatient visits compared with the average patient. (The cost differential was heightened in pediatric patients.)5 Such data indicates that shortening the path to diagnosis for rare disease patients may lead not only to increase patient health but also to a significant reduction in overall long-term healthcare costs.

According to the National Institutes of Health (NIH), there may be upward of 7,000 rare diseases in the United States affecting as many as 30 million people, or nearly one-tenth of the U.S. population.6 Alarmingly, only 5 percent of identified rare diseases have an approved treatment. Despite this daunting figure, approximately 80 percent of rare diseases have genetic origins, a common factor that points to genetic (the testing of individual variants or individual/multiple genes and their effects on an individual) and genomic (the study through various methods of an individual's entire genome and its interaction with the environment) testing as logical tools for identifying and ultimately combating these illnesses.

From concept to execution, the Human Genome Project at the NIH took approximately 15 years and involved the creation of the National Center for Human Genome Research (now the National Human Genome Research Institute, an official Institute at NIH), the collaboration of hundreds of national and international scientists, and an approximate, inflation-adjusted total investment of $5 billion.7,8 Since that time, the cost of performing genetic and genomic testing has declined significantly, with a per-genome cost of slightly less than $1,000 in 2019 compared with per-genome costs of approximately $95 million and $30,000 in 2001 and 2010, respectively.9 This significant cost reduction, which has been associated with the development of next-generation sequencing platforms and leaps in computer hardware development, among other things, has opened the door for patients to more readily access these important resources.

Most tests fall into overall categories of DNA diagnostic testing that include single-gene tests, which can detect an abnormality in a gene associated with a particular genetic illness; whole exome sequencing, which sequences the protein-encoding regions of genes; or whole genome sequencing, which is the most rigorous in that it involves sequencing the individual's entire genome. Given the sheer number of rare diseases and the size of the human genome, it is not surprising that there are numerous genetic tests on the market today. One study indicated that there are approximately 75,000 genetic tests on the market, or 10 issued every day.10

However, insurance coverage for these technologies is minimal and inconsistent despite recent positive reception for the increased use of enhanced technologies for patient treatment through the Precision Medicine Initiative, the NIH's Cancer Moonshot and similar programs. One study indicated that coverage for multigene testing varied drastically by disease type and that tests for broad indications or a large range of genes (i.e., those tests that may be helpful in narrowing down disease possibilities in a diagnostic profile) are frequently not covered by insurers.11 It should be noted that some progress has been made on national coverage determinations for some more widely recognized testing technologies. For instance, next-generation sequencing, a revolutionary sequencing technology that sequences genetic material multiple times simultaneously against a reference genome, received a reissued national coverage determination under the Medicare program from the Centers for Medicare & Medicaid Services (CMS) in October 2019.12 However, while this decision was significant as a model for future coverage for genetic testing services, it was only a minor first step in that it was limited only to previously untested patients with ovarian or breast cancer who are Medicare eligible.13

The large and complicated landscape of genetic testing is partially responsible for the lack of insurance coverage for these technologies. For instance, there are only about 200 standardized Current Procedural Terminology (CPT) codes to identify various types of genetic tests to insurers, other physicians, hospitals and health systems, limiting the ability for payers to systematically cover these technologies. This is especially true when applying "medical necessity criteria," which requires a provider to submit accurate information showing that a treatment or test is medically necessary to treat or diagnose a specific illness in order for it to be reimbursed by a payer. Data have shown that a majority of spending in the past several years on genetic tests has gone to noninvasive prenatal tests, cancer screening tests and multiple-gene analyses.14 This is unsurprising given that some of these technologies target pre-identified, validated markers and that newer screening methods present fewer risks for patients than other, more traditional or invasive testing methods.15 For many conditions, however, showing the medical necessity of genetic testing is still a complicated and unpredictable process when a patient is in the middle or beginning of his or her diagnostic odyssey.

Thus, coverage of new genetic testing technologies continues to remain a major challenge for the medical community and a mystery for the tens of millions of U.S. patients with rare diseases. Although small-scale studies and other evidence show that the use of genetic testing as a means to more quickly and accurately diagnose patients can reduce overall health expenditures, policymakers still lack systematic data showing the effectiveness of genetic testing as a means of cutting overall health spending at a macro level.

Bills have been introduced as recently as the 116th Congress that would create demonstration projects to test coverage of genetic testing technologies for certain patients to help inform future expansions of genetic testing coverage. In addition, Reps. Diana DeGette (D-Colo.) and Fred Upton (R-Mich.), the original champions of the 21st Century Cures Act,16 recently issued a request for information to help inform a follow-on version of the landmark legislation dubbed "Cures 2.0."17 One of the main focuses of their inquiry is into "how Medicare coding, coverage, and payment could better support patients' access to innovative therapies." Expanded coverage to increase access to genetic testing technologies could certainly fit within this scope and would help supplement expanded access and coverage of other new and innovative healthcare technologies for rare disease patients.

Stakeholders across the rare disease landscape have also shared consistent concerns with the length of time between when a new or breakthrough medical technology is approved and when it receives coverage by insurers. Underutilized programs may help speed new technologies to the patients that need them by shortening the gap between approval and coverage. One such example is the U.S. Food and Drug Administration (FDA)-CMS parallel review program for medical devices, which was recently touted by U.S. Department of Health and Human Services (HHS) Deputy Secretary Eric Hargan at the recent FDA/CMS Summit18 and through which a next-generation sequencing test received a parallel approval and coverage determination in 2017.19 These efforts may help the scientific community and others assemble data about how greater access to these technologies positively affect patient care, provide information necessary for lawmakers to empower CMS, the FDA and others to work together on increasing coverage and access, as well as to create mechanisms to speed new technologies to patients in need.

In addition to testing expansion of coverage and access for genetic and genomic testing, further investments should be made into public-private partnerships and other information gathering networks that may centralize information from a diverse group of medical professionals to provide patients additional resources for rare disease diagnosis. For instance, the Undiagnosed Diseases Network, housed at the NIH, utilizes a dozen sites nationwide where teams of physicians assess rare disease patients and share data, including genetic testing data through a "sequencing core," to maximize the amount of national expertise available to pin down rare disease diagnoses that would be extremely difficult and expensive to receive if patients sought expertise individually.20 In addition to further investment in these resources, continued policy development and investment in the development of artificial intelligence technologies and diagnostic support software tools, which have shown promise in assisting physicians in the early detection of rare disease through symptom analysis,21 will provide additional means for patients to receive care more quickly through largely noninvasive means.

Finally, payers both public and private may lack expertise in understanding and evaluating genetic tests, especially for rare diseases. Insurers should prioritize hiring individuals to supplement their teams who have some form of advanced knowledge not only of rare diseases but also the nature of genetic testing technologies and how they are used to expedite disease diagnoses. This is especially true given the rapid development of new testing systems and the growing use of other diagnostic technologies promoted in part by provisions in the 21st Century Cures Act and other legislation.

While it typically refers to something that is uncommon, the term "rare" can also imply heightened value. Greater investment in improving the diagnostic odyssey for rare disease patients, including through greater coverage of new technologies, can only enhance the value and efficiency of the U.S. healthcare system for all patients not just the few.

1 DeBellis A. From Horses to Zebras: My Rare Disease Journey. Global Genes. March 28, 2018.

2 Howley EK. Who Can Help Me With a Rare Disease? U.S. News & World Report. July 2, 2018.

3 "Spotlight on rare diseases." The Lancet Diabetes & Endocrinology. February 2019. 7(2):75.

4 Grier J. et al. "Diagnostic odyssey of patients with mitochondrial disease." Neurology Genetics. April 2018. 4(2):e230.

5 Imperial College Health Partners. A preliminary assessment of the potential impact of rare diseases on the NHS. November 2018.

6 FAQs About Rare Diseases. National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center.

7 National Human Genome Research Institute. International Consortium Completes Human Genome Project. April 14, 2003.

8 National Human Genome Research Institute. NHGRI History and Timeline of Events.

9 National Human Genome Research Institute. DNA Sequencing Costs: Data.

10 Lewis R. 10 New Genetic Tests Reach the Market Each Day. Medscape. May 8, 2018.

11 Phillips KA, et al. Payer coverage policies for multigene tests. Nature Biotechnology. July 2017. 35(7):614-617.

12 Proposed Decision Memo for Next Generation Sequencing (NGS) for Medicare Beneficiaries with Advanced Cancer (CAG-00450R). Centers for Medicare & Medicaid Services. Oct. 29, 2019.

13 Id.

14 Phillips KA, et al. Genetic Testing Availability And Spending: Where Are We Now? Where Are We Going? Health Affairs (Millwood). May 2018. 37(5):710-716.

15 Id.

16 Public Law 114-255.

17 Cures 2.0.

18 Wang B. HHS Officials Plug Parallel Review As Way To Spur Innovative Therapies. Inside Health Policy. Dec. 10, 2019.

19 Mezher M. FDA, CMS: Second Parallel Review Decision Ever for NGS Test. Regulatory Focus. Dec. 1, 2017.

20 Undiagnosed Diseases Network: About Us. National Institutes of Health.

21 Ronicke S, et al. Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study. Orphanet Journal of Rare Diseases. March 21, 2019. 14(69).

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Sequence of Events: Genetic Testing Offers Significant Promise, But Coverage and Access Limited - JD Supra

Three investigative therapies by Proteostasis Therapeutics PTI-801, PTI-808, and PTI-428 showed potential to treat cystic fibrosis (CF) patients ineligible for approved CFTR modulators after patient-specific lab models produced promising results that support a future clinical trial.

Funded by the EUs initiative HIT-CF (Human Individualized Therapy of CF), this early study was conducted on patient organoids, which are miniaturized organ models derived from patient cells.

Based on the positive results, a clinical trial in adult CF patients is expected to start in 2020. If successful, the trial results may serve as the basis for a marketing authorization applicationin Europe in 2021.

With the help of CF-Europe (a patient organization) and the European Cystic Fibrosis Society Clinical Trial Network (ECFS-CTN), HIT-CF has been recruiting adult CF patients to collect tissue samples and create organoids, three-dimensional organ models grown in the lab.

Organoids mimic several characteristics of the organ from which they are derived, and are genetically identical to the donor. As such, they allow researchers to study biological processes and response to treatments in an environment that closely resembles human organs. As organoids are basically human cells cultured outside the body, they are said to be ex-vivo models.

The idea is to screen treatment candidates in the lab using intestinal organoids, or mini-intestines, obtained from rectal tissue (biopsies) of patients, which are collected through a quick and painless procedure. Then, based on how the organoids respond to each therapeutic candidate, a group of patients will be selected to enroll in a clinical trial.

Because the organoids can help determine the therapeutic candidate most likely to give the best results, researchers can personalize treatments for each patient before starting the trial.

So far, intestinal organoids from more than 300 patients have been created, of which 65 have been used to test Proteostasis potential CFTR modulators.

Proteostasis is honored to have been invited to participate in the HIT-CF project, and is the only company in the group with a combination of novel CFTR modulators being testedex-vivo. We are very enthusiastic about the progress of the study, Geoffrey Gilmartin, MD, chief medical officer of Proteostasis, said in a press release.

The positive results obtained on organoids support the launch of a clinical trial called CHOICES Crossover trial based on HumanOrganoidIndividual response inCF EfficacyStudy that will test the potential treatments on patients whose organoids responded favorably to the agents.

The study will also evaluate if organoids are good models to identify promising CF therapies, that is, if the responses measured on organoids translate to potential clinical benefits in patients, as reflected by lung function tests (FEV1) or sweat tests.

CHOICES will be a placebo-controlled, double-blind study that includes an eight-week treatment period, plus six months of constant dosing.

The study includes Proteostasis three candidate CFTR modulators, specially intended for patients who carry rarer CFTR genetic defects. All three compounds have different modes of action. PTI-801 works as a CFTR corrector, PTI-808 is a CFTR potentiator, and PTI-428 is a CFTR amplifier.

The trial is planned to start in mid-2020, with its first data anticipated for the end of 2020.

If moving forward, CHOICES will become the first trial based on personalized medicine for CF patients.

The inequality in access to CFTR modulators is an acute problem across Europe where 1 in 5 individuals do not have a F508del mutation [the most common CF-causing mutation]. In addition, drug reimbursement policies are leading to an ever-growing gap between patients who do, and those who do not have effective treatment options, said Christiane De Boeck, Work Package Leader at HIT-CF.

At HIT-CF Europe, we believe that novel strategies such as personalized medicine and development of new treatment options are central to addressing the inequality of access across the continent. We are thrilled with these initial results and look forward to providing additional updates, De Boeck added.

Gilmartin said that in Europe more than 2,300 adult CF patients are ineligible for approved CFTR modulators, and therefore excluded from participating in clinical trials.

This projects proposed personalized medicine approach is paving a potential new way to develop and provide access to novel CFTR modulators for patients with the most dire need for treatment options that target the cause of the disease. Additionally, based on an individual patients disease phenotype, and not just the genetic designation, this approach could also create a new path towards more effective treatment for all people with CF, Gilmartin said.

Proteostasis is also running a clinical trial evaluating a combination of the three candidate therapies for the treatment of CF patients who have at least one copy of the F508del mutation in the CFTR gene.

Ana is a molecular biologist enthusiastic about innovation and communication. In her role as a science writer she wishes to bring the advances in medical science and technology closer to the public, particularly to those most in need of them. Ana holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she focused her research on molecular biology, epigenetics and infectious diseases.

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Patrcia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.

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Personalized CF Medicine to be Tested for Rare Genetic Defects in Europe - Cystic Fibrosis News Today

CAMBRIDGE, Mass., Dec. 13, 2019 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (SRPT), the leader in precision genetic medicine for rare diseases, announced today that it has entered into an agreement with funds managed by Pharmakon Advisors, LP, that provides Sarepta with up to $500 million of borrowing capacity in two tranches. The first $250 million (Tranche A) is available shortly after closing in December 2019, with an additional $250 million (Tranche B) available at Sareptas option by Dec. 31, 2020, subject to certain conditions. Both tranches are available at a rate of 8.5% annually, payable quarterly. The facility will mature 48 months from the Tranche A closing date. Additional information on the agreement will be set forth in a Form 8-K to be filed by the Company with theSecurities and Exchange Commission.

Pharmakon Advisors, LP, is the investment manager of the BioPharma Credit funds including BioPharma Credit Investments V LP and BioPharma Credit PLC (BPCR.L), the only listed investor specialized in life sciences debt.

AboutSarepta TherapeuticsSarepta is at the forefront of precision genetic medicine, having built an impressive and competitive position in Duchenne muscular dystrophy (DMD) and more recently in gene therapies for Limb-girdle muscular dystrophy diseases (LGMD), Charcot-Marie-Tooth (CMT), MPS IIIA and other CNS-related disorders, totaling over 20 therapies in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. Sarepta is fueled by an audacious but important mission: to profoundly improve and extend the lives of patients with rare genetic-based diseases. For more information, please visit http://www.sarepta.com.

Forward-Looking StatementThis press release contains "forward-looking statements." Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding Sareptas ability to borrow funds under the agreement with Pharmakon Advisors, L.P., and the timing and terms of the borrowing; and Sareptas mission to profoundly improve and extend the lives of patients with rare genetic-based diseases.

These forward-looking statements involve risks and uncertainties, many of which are beyond Sarepta's control. Known risk factors include, among others, market conditions, Sareptas market capitalization, any refusal by Pharmakon Advisors, L.P. to fund and other Company factors or circumstances that could negatively impact Sareptas ability to satisfy its obligations or borrow under the terms of the agreement with Pharmakon Advisors, L.P. There can be no assurance that Sarepta will be able to comply with the terms of the agreement with Pharmakon Advisors, L.P., which may result in an event of default under such agreement that could give Pharmakon Advisors, L.P. the right to require immediate payment of any amounts borrowed under such agreement or to exercise its rights with respect to the assets of Sarepta that are collateral or have been pledged by Sarepta as security or other assets of Sarepta; Sarepta may not be able to execute on its business plans, including meeting its expected or planned regulatory milestones and timelines, research and clinical development plans, and bringing its product candidates to market, for various reasons, some of which may be outside of Sareptas control, including possible limitations of company financial and other resources, manufacturing limitations that may not be anticipated or resolved for in a timely manner, and regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover Sareptas product candidates; and those risks identified under the heading Risk Factors in Sareptas most recent Annual Report on Form 10-K for the year ended December 31, 2018 and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by the Company which you are encouraged to review.

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Any of the foregoing risks could materially and adversely affect the Companys business, results of operations and the trading price of Sareptas common stock. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof.

Internet Posting of Information

We routinely post information that may be important to investors in the 'For Investors' section of our website atwww.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc.

Investors:Ian Estepan, 617-274-4052iestepan@sarepta.com

Media:Tracy Sorrentino, 617-301-8566tsorrentino@sarepta.com

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Sarepta Therapeutics Announces $250 Million of Non-Dilutive Senior Secured Loan Financing - Yahoo Finance

Elmwood Park, NJ, Dec. 19, 2019 (GLOBE NEWSWIRE) -- BioReference Laboratories, Inc., an OPKO Health Company, along with its genetics and genomics laboratory, GeneDx, Inc., and oncology, urology and womens health division, GenPath Diagnostics, are pleased to provide a 2019 business update, highlighting new tests that lead to faster diagnoses, payer relationships that provide greater access to care, and new tools that empower patients to take responsibility of their health. Work completed by the company this year reinforces its commitment to healthcare providers, patients and payers, as well as the local community and its employees.

The healthcare industry is moving towards preventive, convenient and personalized care, and the landscape is shifting to place patients at the forefront of decisions regarding their health. As we nod to our history as a physician-led laboratory, we focused 2019 on strengthening our resources and making strategic investments that reinforce our commitment to providers and patients alike. As we celebrate this years accomplishments and look to the future, well continue striving to empower consumers with the knowledge and tools to drive their healthcare in the most simple, accurate and efficient manner, said Jon R. Cohen, M.D., Executive Chairman of BioReference Laboratories.

2019 Highlights Include:

About BioReference Laboratories, Inc.

BioReference provides comprehensive testing to physicians, clinics, hospitals, employers, government units, correctional institutions and medical groups. The company is in network with the five largest health plans in the United States, operates a network of 10 laboratory locations, and is backed by a medical staff of more than 160 MD, PhD and other professional level clinicians and scientists. With a leading position in the areas of genetics, womens health, maternal fetal medicine, oncology and urology, BioReference and its specialty laboratories, GenPath and GeneDx, are advancing the course of modern medicine. For more information, visithttps://www.bioreference.com.

About OPKO Health, Inc.

OPKO Health is a diversified healthcare company. In diagnostics, its BioReference Laboratories is one of the nation's largest full-service clinical laboratories; GeneDx is a rapidly growing genetic testing business; the 4Kscore prostate cancer test is used to assess a patients individual risk for aggressive prostate cancer following an elevated PSA and to help decide about next steps such as prostate biopsy; Claros 1 is a point-of-care diagnostics platform with a total PSA test approved by the FDA. In our pharmaceutical pipeline, RAYALDEE is our first pharmaceutical product to be marketed. OPK88003, a once-weekly oxyntomodulin for type 2 diabetes and obesity reported positive data from a Phase 2 clinical trial. Its among a new class of GLP-1/glucagon receptor dual agonists. OPK88004, a SARM (selective androgen receptor modulator) is currently being studied for various potential indications. The companys most advanced product utilizing its CTP technology, a once-weekly human growth hormone for injection, successfully met its primary endpoint and key secondary endpoints in a Phase 3 study and is partnered with Pfizer. OPKO also has research, development, production and distribution facilities abroad. More information is available at http://www.opko.com

Cautionary Statement Regarding Forward-Looking Statements

This press release contains "forward-looking statements," as that term is defined under the Private Securities Litigation Reform Act of 1995 (PSLRA), which statements may be identified by words such as "expects," "plans," "projects," "will," "may," "anticipates," "believes," "should," "intends," "estimates," and other words of similar meaning, including statements regarding our ability to improve access to the 4Kscore test, whether the 4Kscore test accurately determines a mans risk of aggressive prostate cancer, whether other diagnostic tests we develop lead to fewer missed detections, faster diagnosis and more accurate treatment of various disorders, or achieve other benefits, as well as other non-historical statements about our expectations, beliefs or intentions regarding our business, technologies and products, financial condition, strategies or prospects. Many factors could cause our actual activities or results to differ materially from the activities and results anticipated in forward-looking statements. These factors include those described in the OPKO Health, Inc. Annual Reports on Form 10-K filed and to be filed with the Securities and Exchange Commission and in its other filings with the Securities and Exchange Commission. In addition, forward-looking statements may also be adversely affected by general market factors, competitive product development, product availability, federal and state regulations and legislation, the regulatory process for new products and indications, manufacturing issues that may arise, patent positions and litigation, among other factors. The forward-looking statements contained in this press release speak only as of the date the statements were made, and we do not undertake any obligation to update forward-looking statements. We intend that all forward-looking statements be subject to the safe-harbor provisions of the PSLRA.

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BioReference Laboratories Showcases 2019 Growth through the Addition of Cutting Edge Tests, Greater Access to Services, and Optimized Patient...

December 12, 2019 -Payers are using coordinated care and precision medicine to make diagnoses more quickly and ensure a strong treatment plan for severe and chronic disease management.

Early detection of chronic and severe diseases can mean the difference between life and death. It can also mean the difference between affordable therapies and crippling medical bills.

A March 2018 study found that early cancer diagnosis could result in significant cost savings nationally. Researchers looked at 17 types of cancer and estimated that early detection could save, conservatively, $26 billion nationally.

Recognizing what is at stake, payers take different approaches to catching severe or chronic illnesses in their formative stages.

Coordinated care is a simple, well-tested method for both chronic disease prevention and chronic disease management.

READ MORE: Chronic Disease Coordinated Care May Not Impact Pediatric Spending

Humana recently announced that it would pursue a traditional approach to ensure that patients in danger of chronic kidney and end of life renal disease find out early and get the support they need.

Humana will task skilled provider teams with catching these diseases earlier and implementing personalized treatments.

This coordinated care strategy builds a team of nephrologists, nurses, dietitians, and social workers from one of Humanas two partnerseither Monogram Health or Somatus, depending on geographic location.

The providers will work with the patients primary care physician to determine the best treatments and provide home healthcare options, patient education, and mental healthcare support through counseling.

This multidisciplinary approach will focus on detecting kidney disease earlier, slowing disease progression, and utilizing therapies that enable members to receive care in the convenience of their own home, said William Shrank, MD, MPHS, Humanas chief medical and corporate affairs officer.

READ MORE: Cigna and MSK Start Value-Based, Coordinated Cancer Care Program

Through this collaboration, we will strengthen care coordination for Humana members with kidney disease. Our partnerships will offer customized care options, and will empower patients with education and engagement tools to better manage their condition.

In February, Humana took a similar approach with its oncology program, enhancing its coordinated care strategy and using analytics to ensure quality care.

With new advancements every day in genetic therapies, precision medicine is another method payers use to ensure that patients receive a quick diagnosis and the best treatment plan.

CVS Health launched an oncology care program called Transform Oncology Care, which uses precision medicine to identify and treat cancer patients. The program is rolling out to Aetna members in 12 states but is also available for use by other payers.

Due to CVS Healths geographic and data footprint, it can assess the likelihood that a patient will get cancer. With that information, the patients provider can intervene early on to pursue preventive care, screenings, or therapies.

READ MORE: Precision Medicine Challenges Persist, Aetna Leads Response

When it comes to identifying the appropriate therapies, the program allows providers to use genetics to identify the best course of treatment for a patient recently diagnosed with cancer.

Timing in cancer care is everything and when a patient does not get started on the right treatment it can result in progression and higher costs, said Alan Lotvin, MD, executive vice president and chief transformation officer at CVS Health.

We are the first company working to make the latest in precision medicine accessible to more patients and further empower informed treatment decision-making based on a patient's genetic profile to give them the best chance for successful treatment and improved quality-of-life.

Working in coordination with its third-party vendor, Tempus, CVS Healths new program will enable patients to undergo a broad-panel gene sequencing test once diagnosed to determine the best treatment. This is ideal not only for patients in early stages of cancer, but especially for patients in more advanced stages who need to start treatment as soon as possible.

Because genomic sequencing has certain eligibility requirements, providers are not always aware that gene sequencing is an option open to their patient.

In order to ensure that oncologists prescribe gene sequencing to eligible patients, CVS Health introduced a web-based provider portal into its e-prescribing software which allows oncologists to see the patients eligibility for the broad-panel gene sequencing tests among other functions.

For those who qualify, the program identifies the best treatment options based on genetic makeup. It also alerts providers to potential clinical trials that patients can enroll in and makes the enrollment process easier and faster.

The program integrates National Comprehensive Cancer Network guidelines which are constantly updated for the most recent suggested prescribing and treatment options.

Critically, this service can be employed at the point of detection, so treatments can be identified immediately, and a therapeutic strategy quickly determined.

CVS Health combines this digital solution with a nurse-led coordinated care team to continue quality of care after the diagnosis.

This service is available for only fully insured commercial members.

Among its other chronic disease management developments, earlier this year, CVS Health used preventive care to improve diabetes treatment.

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Care Coordination and Precision Medicine Improve Early Diagnoses - HealthPayerIntelligence.com

A genetic variant found in about 3% of people of African ancestry is a more significant cause of heart failure than previously believed, according to a multi-institution study led by researchers at Penn Medicine. The researchers also found that this type of heart failure is underdiagnosed. According to their study, 44% of TTR V122Ivariant carriers older than age 50 had heart failure, but only 11% of these individuals had been diagnosed with hATTR-CM. The average time to diagnosis was three years, indicating both high rates of underdiagnoses and prolonged time to appropriate diagnosis

This study suggests that workup for amyloid cardiomyopathy and genetic testing of TTR should be considered, when appropriate, to identify patients at risk for the disease and intervene before they develop more severe symptoms or heart failure, said the studys lead author Scott Damrauer, M.D., an assistant professor of Surgery at Penn Medicine and a vascular surgeon at the Corporal Michael J. Crescenz VA Medical Center. (Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania and the University of Pennsylvania Health System.)

In this study, researchers from Penn Medicine and the Icahn School of Medicine at Mount Sinai used a genome-first approach, performing DNA sequencing of 9,694 individuals of African and Latino ancestry enrolled in either the Penn Medicine BioBank (PMBB) or the Icahn School of Medicine at Mount Sinai BioMe biobank (BioMe). Researchers identified TTR V122I carriers and then examined longitudinal electronic health record-linked genetic data to determine which of the carriers had evidence of heart failure.

The findings, which were published today in JAMA, are particularly important given the US Food and Drug Administrations (FDA) approval of the first therapy (tafamidis) for ATTR-CM in May 2019. Prior to tafamidiss approval, treatment was largely limited to supportive care for heart failure symptoms and, in rare cases, heart transplant.

Our findings suggest that hATTR-CM is a more common cause of heart failure than its perceived to be, and that physicians are not sufficiently considering the diagnosis in certain patients who present with heart failure, said the studys corresponding author Daniel J. Rader, M.D., chair of the Department of Genetics at Penn Medicine. With the recent advances in treatment, its critical to identify patients at risk for the disease and, when appropriate, perform the necessary testing to produce an earlier diagnosis and make the effective therapy available.

hATTR-CM, also known as cardiac amyloidosis, typically manifests in older patients and is caused by the buildup of abnormal deposits of a specific transthyretin protein known as amyloid in the walls of the heart. The heart walls become stiff, resulting in the inability of the left ventricle to properly relax and adequately pump blood out of the heart. However, this type of heart failurewhich presents similar to hypertensive heart disease is common, and the diagnosis of hATTR-CM is often not considered.

Tafamidis meglumine is a non-NSAID benzoxazole derivative that binds to TTR with high affinity and selectivity. TTR acts by transporting the retinol-binding protein-vitamin A complex. It is also a minor transporter of thyroxine in blood. Its tetrameric structure can become amyloidogenic by undergoing rate-limiting dissociation and monomer misfolding.

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Penn Team Finds Genetic Variant Largely Found in Patients of African Descent that Increases Heart Failure Risk - Clinical OMICs News