Category Archives: Genetic Medicine

Written by Seema Chishti | New Delhi | Updated: February 7, 2020 8:15:43 am The project is said to be among the most significant of its kind in the world because of its scale and the diversity it would bring to genetic studies.

The government has cleared an ambitious gene-mapping project that is being described by those involved as the first scratching of the surface of the vast genetic diversity of India. The project is said to be among the most significant of its kind in the world because of its scale and the diversity it would bring to genetic studies.

The Indian Express has learnt that the Rs 238-crore Genome India Project, which will involve 20 leading institutions including the Indian Institute of Science (IISc) in Bengaluru and a few IITs, will be rolled out soon.

Cleared by the Department of Biotechnology (under the Department of Science and Technology) late last month, the first stage of the project will look at samples of 10,000 persons from all over the country to form a grid that will enable the development of a reference genome.

The IIScs Centre for Brain Research, an autonomous institute, will serve as the nodal point of the project its director, Prof Vijayalakshami Ravindranath, will be the coordinator.

When contacted by The Indian Express, Ravindranath did not provide any details of the project. Mapping the diversity of Indias genetic pool will lay the bedrock of personalised medicine and put it on the global map. Considering the diversity of population in our country, and the disease burden of complex disorders, including diabetes, mental health, etc., once we have a genetic basis, it may be possible to take action before the onset of a disease, she said.

The institutions involved will work on different aspects of the project, including providing clinical samples and assisting with research. Some IITs will help with new methods of computation, which are essential, sources said.

Steps to get the project underway started in 2017 when Infosys co-founder Kris Gopalakrishnan set up the Centre for Brain Research at IISc for research in ageing and diseases such as Alzheimers.

As part of a two-pronged approach, Gopalakrishnan provided funding of Rs 275 crore for a rural pilot project in Kolar and Tata Trusts came up with Rs 75 crore to fund the corresponding urban project in Bengaluru.

The group involved in the initiative then approached the central government for a nationwide project to sequence the Indian gene and push research in medicine.

Last weekend, referring to new schemes in the Budget, the government said: Mapping of Indias genetic landscape is critical for next generation medicine, agriculture and for bio-diversity management. To support this development, we will initiate two new national level Science Schemes, to create a comprehensive database.

Dr Renu Swarup, Secretary, Department of Biotechnology, could not be reached for comment. However, on February 1, Swarup had posted on Twitter: Thank you Honble FM @nsitharaman for a big boost to Science&Technology in the #Budget2020 Mapping of Indias genetic landscape for next generation medicine, agriculture, bio-diversity management. Two new Science Schemes, to create a comprehensive database.

Sources said the thought behind the project was that all the easy hits in medical research had been met, and there was no real research coming forth.

To really arrive at a breakthrough with modern lifestyle diseases such as cardiac diseases, diabetes or other mental health issues, large collaborations were the need of the hour, combined with huge technological and computational endeavours, the sources said.

For instance, on Wednesday, Nature and its affiliated journals reported the results of a decade-long global collaboration involving 1,300 scientists to map genetic mutations that drive the development of cancer. This is expected to play a significant role in reducing the mortality rate linked to cancer.

Scientists linked to the Indian project say genetic studies so far are based on almost 95% white caucasian samples. What makes the IIScs pilot rural Kolar study unique is that it is not of urban and rich or middle-class samples, and that could potentially have revolutionary implications on world research, a scientist said.

It is established that the first migrations of humans were from Africa to India, and then there were several waves of migration that provided vast horizontal diversity. And, with endogamy being practiced over many generations, across groups, it (the project) may help to get a sharper understanding of diseases transmitted genetically down the line as well as some healthy attributes, the scientist said.

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Mega project to map Indias genetic diversity gets govt green signal - The Indian Express

Anastasia Buturin gradually stopped moving her arms, hands and legs when she was a baby but doctors in her native country Romania were not able to identify the cause of her condition.

In 2016, she moved to the UK with her parents, Valentin and Cristina. She had regular physical therapy but there was no improvement in her condition.

By the time she was three years old she was no longer able to move her head and was barely able to open her eyes and spent most of her time asleep.

But thanks to life-changing treatment at Evelina London childrens hospital, Anastasia is now able to talk, and move and control her head, hands, arms and legs.

Her father, Valentin, said: When Anastasia was born she was a normal healthy baby. She was very happy, smiley and made lots of eye contact.

When she was around three months old, we noticed that she was becoming very floppy and was struggling to hold her head up and as she got older she couldnt move her hands, arms or legs.

We were extremely concerned but no one was able to tell us what was wrong.

She had lots of tests done and we took her to see different doctors but they were baffled by her condition and the closest we got to a diagnosis was that she might have cerebral palsy but no one could say for certain. We couldnt accept that she would never be able to walk or talk and we were desperate for answers.

Thankfully she was able to communicate with us by moving her eyes and smiling but as she got older making those movements became increasingly difficult.

It was extremely heart-breaking watching Anastasias body deteriorate. We began to fear that her life was in danger.

In 2018, after Anastasias care was transferred to Evelina London she had genetic tests at the hospital which revealed that she had a rare genetic condition called Tyrosine Hydroxylase deficiency.

The condition is caused by a reduction in the amount of dopamine in the body. Dopamine is a chemical produced naturally in the body, which helps the muscles and the brain to function effectively.

In June 2018, Anastasia started dopamine replacement treatment and now, she move her legs and take short steps if she holds on to someone for support.

Valentin said: Once Anastasia started treatment we saw a change in her condition almost immediately. Within two days she was able to wave her hands around, open the palms and cuddle her teddies.

Six months after she began treatment she started saying words and she said mum and dad for the first time last December.

It was such a magical moment. We waited four years to hear her say those words.

Anastasia has continued to make huge improvements. She has started speaking in sentences, and speaks both English and Romanian.

She can also sit forward, has head control and can use her hands well enough to use an Ipad and can operate her powered wheelchair. Her life has been completely transformed.

We are taking each day as it comes but our dream is that she will eventually be able to walk independently.

Anastasia does not yet have the body strength to take unaided steps but Valentin and Cristina expect her mobility will increase as she continues treatment.

Her school has confirmed that developmentally she has a normal understanding but has been trapped in a non-functioning body for four years, said Valentin.

We are hopeful that she will continue to progress and eventually attend a mainstream school.

Valentin praised the care at Evelina London childrens hospital.

We are extremely grateful for the care Anastasia has received at Evelina London, he commented.

Everyone involved in Anastasias care has gone out of their way to ensure that she got a diagnosis and was able to get the treatment she needed.

Im really keen to raise awareness of Anastasias condition so no other families have to suffer the way we did.

Dr Helen Mundy, consultant in paediatric inherited metabolic medicine at Evelina London, said: Its extremely pleasing to know that Anastasia has responded so well to the treatment.

She has a very severe form of Tyrosine Hydroxylase deficiency, which usually presents in babies and can lead to multiple and profound disability if left untreated.

Dopamine is vital to the body and in short supply it stops the muscle from working properly which is why people with the condition are not able to talk or have extremely limited movement.

The condition can be very difficult to spot and diagnose but at Evelina London we are very fortunate to have teams here that are able to diagnose and treat rare conditions like this.

Read more here:
Seaford girl with rare genetic condition can now talk and take steps after life-changing treatment - Sussex Express

Ethnic and racial minority populations in the U.S. have a long history of being mistreated by the health care system, researchers and the government. The resulting mistrust can pose a challenge for researchers seeking to understand the biology of complex traits, as well as for physicians interested in delivering personalized care to diverse patients. Diversity in precision medicine research is crucial for understanding genetic differences that shape so many health outcomes and potential treatments.

Learn what physicians and health systems can do to advance precision medicine research and build rapport and trust to increase minority participation in critical research.

Genetics and precision medicine have become increasingly important in effective patient care. Through its partnerships and research, the AMA is advancing the ethical implementation of precision medicine.

About 10% of the worlds population is of European ancestry. However, this population accounts for 78% of genetic study participants. The National Institutes of Healths All of Us Research Program aims to address this disparity in medical research by enrolling 1 million or more participants to gather data on a wide variety of health conditions.

The AMA has partnered with the All of Us program, which aims to enable a new era of medicine through research, technology, and policies that empower patients, researchers and providers to work together to develop individualized care. This program is intended to gain better insights into the biological, environmental and behavioral influences on disease to enhance prevention and treatment.

The AMA Ed Hub module, All of Us Research Program: Informing the Future of Health Care, is enduring material and designated by the AMA for a maximum of 0.75 AMA PRA Category 1 Credit.

Learn more about AMA CME accreditation.

There are currently more than 320,000 All of Us participants, with about 250,000 having completed the initial steps of the program. Nationwide, more than 50% of All of Us participants are members of racial or ethnic minority groups. And in Illinois, more than 80% are from groups that have traditionally been underrepresented in biomedical research.

Joyce Ho, PhD, is a research assistant professor and lead investigator for the All of Us Research Program at Northwestern University Feinberg School of Medicine in Chicago. Ho shared how she and her colleagues in Illinois are engaging a diverse pool of participants, and offered advice for how physicians can help.

Were on track to build a sample of 1 million or more participants in the next five years or so, said Ho, adding that Illinois has more than 26,000 participants in the All of Us program to date. The Illinois Precision Medicine Consortium, which includes the University of Illinois, University of Chicago, Rush University Medical Center, NorthShore University Health System, and Cook County Health, is also in the lead nationally for how diverse their participant pool is.

The effort thats needed to reach diverse populations is something that we were prepared to put in, she said. We understood just from the history of research in this countryespecially with underrepresented populationsthat its not just, Hey, heres a consent form, please read it and we know you will participate.

Instead, trust must be built through providing honest and accurate answers to patients questions about precision medicine, the privacy and security of patients data, and more.

Those are all concepts that, regardless of how much you know about biomedical research, or whether you have participated in studies, you deserve a thorough explanation, said Ho.

Learn how to answer patients top five questions about the All of Us Research Program.

The actions of past medical researchers have earned much distrust in minority communities, making it crucial to treat these diverse populations as partners.

Nationally, even at the beginning of designing the All of Us Research Programbecause we know that we have this goal of building a diverse research databasewe made sure that participants are our partners, said Ho.

Participants from all walks of life should be included and valued in the design of the program. Everyone plays a major role.

The National Institutes of Health and its All of Us Research Program partners conducted focus groups to look at everything from participating in research to concepts about precision medicine and sharing data, said Ho. Theres a lot of work ... that we put in to understand how we can really build this resource in a way that includes what different communities want so that we really can benefit the health of people who are living in this country.

One of the most important ways that All of Us Research Program researchers in Illinois have approached this program is in the collaboration of community organizations, health systems and participants. All of Us Research Program investigators in Illinois have decades of experience working with diverse communities in biomedical research.

Transportation is often a barrier to working with underrepresented communities. It can prevent patients from receiving the health care they need. In Illinois, though, mobile clinical research units have allowed researchers to better reach these communities.

Researchers drive these research vehicles containing exam rooms to different communities to engage people about the program. They also leverage long-standing relationships with area churches, community organizations and clinics to engage community members.

That breaks down a lot of the barriers with transportation that happens in many of the communities here in Chicago, said Ho. It really makes a big difference in terms of being able to reach this community.

Engagement is keyin creating a diverse community of participants for precision medicine and biomedical research.

When we go out to talk to folks, we dont immediately ask people to participate. A lot of times, we just have great conversations with people about biomedical research, said Ho. A lot of times we are addressing a potential mistrust that has very reasonably existed in different communities.

For example, the University of Chicago has developed curriculum aimed at addressing mistrust, biomedical research and importance of research inclusion, especially among the African American community.

Our teams develop different engagement tools and strategies to reach communities that have been underrepresented in research, she said, adding that it goes beyond talking to someone for five or 10 minutes before they participate.

Instead, it is multiple conversations over time, and letting participants know that we aim to return health information back to them and perhaps in the future, they might decide to participate, said Ho.

And once participants have shared their information, it is important to reiterate that there will be a waiting period.

One of the challenges is to really explain to participants this is a long-term program and it really takes a lot of time and patience for us to be able to return the value back to you that you deserve, she said.

One of the missions of the program is not just building 1 million people and collecting all this data. Its just to have substantive conversations with people about the importance of inclusion in biomedical research to build awareness, she said.

By creating awareness around precision medicine and building trust within these communities, it is paving the way for future conversations.

Even if theyre being approached by another research group, theyll have a little more trust and understanding about why participation and representation is so important, said Ho.

Illinois All of Us researchers also have a community participant advisory board that provides feedback on the program. Together they discuss additional ways to engage Illinois communities.

These meetings cover items such as how to provide clinically relevant information to participants, which is one of the hallmarks of the program, Ho said. Were not just grabbing the data. Were also planning to return information back to participants.

Not only does the program have a 1-million-person database to build, but they need to have an infrastructure that is ready to process the volume of data and biosamples, while also prioritizing data security and privacy.

Our program spends a lot of resources building as secure of a data system as possible, said Ho, adding that there is also a whole pipeline of generating genomic data and clinically relevant data to return to participants.

Many people are wondering about the security and privacy of the data, so we need to not just build a very secure system, but be able to explain to people what the risks might be so that people can make an informed decision, she said.

One way that the All of Us program is building a robust research resource, is to include EHR data from participants. However, it is important for participants and physicians to know that the data is securely sharedall personal identifiable information is removed.

Data collected will be connected to other data types such as self-reported information, which includes health background and behaviors, as well as medical history, physical measurements and data gleaned from biosamples.

Theres a wide variety of longitudinal data were collecting from participants. Through a research data portal that the program is building, researchers will eventually be able to access data and samples to accelerate medical discoveries for diverse populations. Thats powerful, said Ho.

More:
7 ways to expand diversity in precision medicine research - American Medical Association

Austin was three years old and Max was a newborn when their mother, Jenn McNary, learned they had a rare genetic condition called Duchenne muscular dystrophy. The doctor painted a grim picture: Her boys would stop walking by age 12 or 13 and, shortly thereafter, they would require nighttime ventilation. They would each need a tracheotomy, a feeding tube, or both by their late teens. Death would come a few years later.

It hasn't worked out that way, thanks to two new drugs that became available after the boys' 2002 diagnosis. Exondys 51, a medicine that targets their genetic mutation, slows the disease's progression, and Emflaza, a corticosteroid, mitigates some of its symptoms. Thanks to these treatments, Austin now attends college and interns at a biotech company. Max attends his local high school in Newton, Massachusetts. Both are able to get around in wheelchairs, and neither needs ventilation. McNary just rented an apartment for her boys because they can function on their own with the help of an aide.

By all accounts, the drugs have been transformative, McNary said. But, she added, her boys "aren't going to be cured," and extending and improving their life for an unknown period of time comes at a high price. Emflaza came onto the market in 2017 at an annual cost of $65,000. Exondys 51 appeared in 2016 at $748,500. Neither of the drugs will help the young men walk again and, in the eyes of some U.S. health economists, the drugs are not worth the price.

That's why McNary hates the quality-adjusted life year (QALY, pronounced "qua-lee"), an economic calculation that attempts to quantify the value of a medical intervention, based in part on the quality of life it bestows on recipients.

First developed by U.S. economists in the late 1960s and early 1970s, variations of the QALY have been used for years by governments around the world to help determine what treatments citizens can obtain under public health care. In America's free-market health care system, however, QALY calculations have largely been avoided. As McNary and others like her are finding out, that's starting to change.

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As policymakers and insurance companies scramble to get a handle on skyrocketing health care costs, they are promoting the idea of paying for value. In this view, drugs designated as higher-value should be prioritized over lower-value treatments. But this raises a thorny question: Who gets to define "value"? Health economists and insurance companies who seek to use limited health care dollars judiciously? Or patients, parents, and doctors who want to receive the best health care for their situation?

Because the quality-adjusted life year threatens her sons' ability to get the medicine they need, McNary is clear about her answer. "To me, the QALY is a measurement that says that keeping my sons alive by providing incremental benefit but not totally curing them is never going to be valuable," McNary said. "Just mull that around in your head if you are less than perfect, you are worth less money."

* * *

In QALY math, a year of perfect health is equal to 1; death equates to 0. The value of other health states is derived from surveys of patients, caregivers, or the general public. Paralysis might be valued at .35, for example, and mild Alzheimer's disease at .52, depending on the survey. Those numbers can then be plugged into a formula that allows the relative cost-effectiveness of treatments to be compared to identify the best buys.

Economists developed the QALY concept more than 40 years ago to address a fundamental question: "Where should we spend whose money to undertake what programs to save which lives with what probability?' Richard J. Zeckhauser and Donald Shepard asked in a 1976 article describing the basic QALY formula. The next year, as U.S. health care spending topped $120 billion, Harvard health policy professor Milton C. Weinstein and his colleague, cardiologist William B. Stason, sounded an alarm bell. "It is now almost universally believed that the resources available to meet the demands for health care are limited," they wrote in the New England Journal of Medicine. "We, as a nation, will have to think very carefully about how to allocate the resources we are willing to make available for health care."

Their article cited by other authors more than a thousand times in the past four decades pointed out that resources were already being allocated by millions of individual decisions: hospitals rationing beds where they didn't have room for all patients, for example, and insurers agreeing to pay for some tests and treatments but not for others. Such decisions, they argued, were often inconsistent with the "societal objective of deriving the maximum health benefits from the dollars spent," an objective that could be achieved by putting the QALY to work.

In the intervening decades, some countries the United Kingdom, the Netherlands, and Sweden, for example have embraced QALY-based evaluations. In the U.K., cost-effectiveness studies are used, in part, to determine which therapies the National Health Service will provide for residents. The publicly-funded health system does not cover Orkambi, the first cystic fibrosis treatment that targets the cause of the disease, for example, because its cost-per-QALY far exceeds the U.K. cost-effectiveness threshold.

In the United States, however, QALY-based assessments have not gained traction until recently. "Perhaps the general reason is that we as patients and our providers don't want to be limited in the treatment options available," said Louis P. Garrison Jr., an economist in the Pharmaceutical Outcomes Research and Policy Program at the University of Washington.

In fact, QALY-based cost-effectiveness reviews are so controversial that the federal government has repeatedly quashed their use. In 1992, the Department of Health and Human Services rejected Oregon's attempt to use QALY-based cost-effectiveness assessments to determine what services its Medicaid program would cover. In 2010, as part of the Patient Protection and Affordable Care Act, Congress prohibited the use of QALYs by the Medicare program. It also banned the federal Patient-Centered Outcomes Research Institute from using QALY thresholds in its assessments of comparative treatments.

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A QALY Primer

A QALY reflects quality of life and length of life. A year in "perfect health" is worth 1 QALY, death is worth 0 QALYs, and other health states fall between 0 and 1. The amount that a drug lengthens or improves the quality of life is calculated as "QALYs gained." The cost of getting a certain level of health improvement is the "cost per QALY gained," shown here for several interventions targeting asthma.

But more than half of U.S. residents are covered by private insurance companies, which are not prohibited from using QALY-based assessments to decide which medicines they will cover for their members. Traditionally, however, private insurers have generally not used QALYs explicitly in their decisions about what tests and treatments they will pay for, according to a recent report by the National Council on Disability. Instead, when major U.S. insurers decide to limit access to a given medication, they usually cite insufficient data to justify its use in a given situation.

Indeed, until recently, U.S. insurers did not have a source for QALY-based cost-effectiveness reports. That began to change in 2014, when the Institute for Clinical and Economic Review, a nonprofit research organization based in Boston, turned its attention to high-cost drugs. Founded in 2006 as a research project based at Harvard Medical School, ICER initially issued reports on broad topics such as obesity management and palliative care. But when Sovaldi, a drug for deadly hepatitis C, came on the market at the then-shocking price of $84,000 for a 12-week course of treatment, ICER kicked into action. Despite the high price, its assessment found that Sovaldi is cost-effective for some patients. Insurers took notice.

Since then, the organization has been churning out several drug-assessment reports each year. Each report includes its opinion of how much the drug is worth; drugs priced higher than that are deemed not cost-effective. ICER has no authority over anyone, but its reports have become popular reading for U.S. insurers. "If there is a drug of note being approved by the FDA, there's also likely going to be an ICER assessment of that drug that can factor into their decision-making," said David Whitrap, the research organization's vice president of communications and outreach.

* * *

U.S. health care spending has risen dramatically since Weinstein and Stason expressed concern in the mid-1970s. In 2016, the U.S. spent nearly 18 percent of its gross domestic product on health care, far outstripping the average of 11 percent for 10 other high-income nations. High prices for prescription drugs is one reason. "We're seeing price tags now of $1 million, $2 million," said Seema Verma, administrator for the federal Centers for Medicare and Medicaid Services, at a conference recently. "That's completely unsustainable for the system."

That's why Peter Neumann, director of the Center for the Evaluation of Value and Risk in Health at Tufts Medical Center, said cost-effectiveness analyses are needed more than ever. But there are many reasons for the resistance, Neumann and his co-authors wrote in the Journal of the American Medical Association, including "an inclination on the part of many individuals in the United States to minimize the underlying problem of resource scarcity and the consequent need to explicitly ration care."

Further, Ari Ne'eman, a disability rights activist and consultant to Partnership to Improve Patient Care, a coalition of advocacy groups, said the idea that two health conditions can be numerically compared to one another is simply wrong. "Proponents of the QALY will say it is this mathematically perfect measure that gives us a superpower ability to compare depression drugs to cystic fibrosis drugs to cancer drugs even though all of those drugs do different things because it lets you translate them back to this common measure," he said. "Our concern is that when you engage in that process of translation, you lose some significant nuance in terms of the amount of benefit that's being delivered."

The Partnership argues the QALY calculation is flawed because it assumes quality of life can be captured by a certain number, despite the fact that different surveys arrive at different numbers. For example, a 2006 quality-of-life survey in the U.S. assigns blindness/low vision as .69 on the 0-to-1 scale, while a 2011 survey in the U.K. gives blindness/low vision a score of .78.

Beyond the methodological issues, Ne'eman said, "there are all kinds of ethical problems with it." People with disabilities and chronic medical conditions may value a treatment that offers an incremental improvement in the quality or length of their lives, even though the "QALYs gained" are less than those for a treatment that prevents the loss of perfect health.

Former U.S. Representative Tony Coelho, a Democrat from California and a primary author of the Americans with Disabilities Act, is the Partnership's chairman. "I worry that more focus is being given to what is most cost-effective for the 'average patient' than creating a system that works for each individual patient," he wrote in 2018. "The medication I take for epilepsy isn't 'high value' for every patient. But it's the only one that works for me."

That's why, Ne'eman said, cost-effectiveness analyses must consider the fact that not all patients respond the same way to a drug. Some patients need drugs that aren't deemed cost-effective for the general population. It's important to account for that, he said. "Otherwise we're giving insurers a tool to deny care to people who need it."

When an insurer decides to cover a specific drug, that decision affects everybody who pays into the insurance pool. Michael Sherman, chief medical officer for the insurer Harvard Pilgrim Health Care, uses the example of a gene therapy that costs $1 million to treat a child who will die without it. Under the ACA, families will hit their out-of-pocket maximum at about $16,000, and many health plans have out-of-pocket maximums far below that. "The rest of that million dollars is going to be paid by everyone else that's the way it works in insurance," he said. When insurers see that kind of unanticipated budget impact, they raise premiums or out-of-pocket cost-sharing for everyone.

Like other proponents of the QALY, Neumann sees it as an imperfect but useful tool. "Any single number is never going to capture everything," he said.

"The problem is, if you're not going to use QALYs, what are you going to use?"

* * *

That's an urgent question, particularly now when there is a huge pipeline for rare-disease therapies, often called orphan drugs. By 2024, orphan drug sales are expected to reach $242 billion.

In the U.S., a rare disease is defined as one that affects fewer than 200,000 people. While these conditions are individually rare, in the aggregate, an estimated 25 to 30 million Americans that's about one in 10 live with a rare disease. Most rare diseases affect children, and many are fatal or disabling.

Historically, drugmakers spent little effort developing treatments for rare diseases, but that changed with the passage of the Orphan Drug Act of 1983, which provides tax credits and a seven-year marketing exclusivity to companies that develop rare-disease treatments. Hundreds of such treatments have won FDA approval in recent years, with more than 560 medicines in the works.

Those treatments are generally expensive. On average, the per-patient cost for orphan drugs in the U.S. is almost 4.5 times more than for non-orphan drugs.

In the two decades ending in 2017, the average annual cost for orphan drugs was $123,543, based on the price at the time the drug launched, compared to $4,961 for traditional drugs. For Duchenne alone, more than 30 orphan therapies are in development. None of them are going to cure patients, McNary said. But she hopes new treatments, generally used in combination, will help her sons live longer, healthier lives and completely change the disease trajectory for younger patients whose disease has not yet progressed as far.

The barrier she worries about is cost-effectiveness analysis. In August, the Institute for Clinical and Economic Review published its assessment of treatments for Duchenne, which affects about 400 to 600 boys born in the U.S. each year. Emflaza, the corticosteroid, appears to be as good as or better than prednisone, another corticosteroid approved to treat the disease, but it would need a price cut of at least 73 percent to be considered cost-effective.

Exondys 51 approved by the FDA for about 13 percent of the Duchenne population got a worse review. In the clinical trials used to seek FDA approval, no clinical benefit, including motor function improvement, was demonstrated. (The FDA approved the drug because some of the patients treated with Exondys 51 had a slight increase in dystrophin levels in skeletal muscle.) In light of that, Exondys 51 was not deemed cost-effective at any price.

But Jenn McNary said the drug works for her sons. Austin, who was not eligible for the Exondys 51 clinical trial, stopped walking at age 10. Max got in the trial and started taking the drug at age 9."They have the same mutation, they have been raised by the same mother, so one would expect they would progress similarly," she said. "But Max walked until he was 17."

Austin was already in a wheelchair when, at age 15, he started taking Exondys 51. He regained some upper-body strength that changed his life, according to his mother. "He's able to use a urinal on his own, which makes is possible for him to have a job and to go to college without an aide," she said.

The Medicaid program in Massachusetts, where the McNarys live, won't pay for Max's Duchenne therapies. For the time-being, the drugmakers are giving him the drugs free through a patient-assistance program. Austin, because he's enrolled in college, is eligible for student coverage through Blue Cross Blue Shield of Massachusetts. The insurer, by policy, does not cover Exondys 51 for patients who can no longer walk. His mother appeals the insurance denial. Every six months, she sends a video of Austin in action, along with a letter from his doctor and so far, his medicines have been covered.

The payers made their coverage policies before the quality-adjusted life year analysis was published. Now, insurers who have been covering the Duchenne treatments have an independent analysis with which to rethink that decision.

For now, there is one thing that QALY supporters and critics agree on. "Very promising drugs are coming, and they're going to be very expensive," said Neumann, the health economist at Tufts. Increasingly, the QALY appears poised to influence how American health care money is spent.

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Lola Butcher is a health care business and policy writer based in Missouri.

This article was originally published on Undark. Read the original article.

Originally posted here:
Is the medication you're taking worth its price? - Salon

It is important to note that a pill to cure HIV is not simply around the corner, Dr. David Margolis, director of the UNC HIV Cure Center, said.

Some of the challenges of the virus include how it integrates itself into the genetic material of human cells, Chahroudi said.

"In a way, it becomes a foreign gene that is living in the human cell," Margolis said. "That cell looks like any other cell in the body, so there is no drug or immune response that can see it. Once the sleeping virus is re-awoken, it spreads."

The long-lived persistence of the HIV virus in the body makes it difficult to eradicate, due to latently infected cells that escape the bodys immune system, according to UNC's HIV Cure Center.

When it is silent and integrated into the host cell genome, it is not visible to the immune system, and so the immune system basically doesnt have a way to attack it when its in this latent form, Chahroudi said.

People who are infected with HIV and treated with standard antiviral treatment which is effective at suppressing virus replication are still at risk by HIVs nature, Chahroudi said.

In order to try to enable the immune system to now be able to see the virus in patients or monkeys or mice who are treated with AVT you need to test different approaches to try to reverse that latency, Chahroudi said. That basically means reawakening the virus, or activating the virus, in order to now express viral antigens that can be seen and targeting by the immune system.

The work on this project began in conjunction with the beginning of the UNC and ViiV Healthcare Limited partnership, said Richard Dunham, adjunct assistant professor in the UNC HIV Cure Center and director at ViiV Healthcare.

Its really born at the interface of industry, academia, here at Qura," Dunham said. "We started on this work back in 2016/2017 and then worked our way from the lab to the mouse to the monkey over the last several years.

Chahroudi said that despite the new research discoveries, no cure has been discovered.

Neither of them was able to reduce the level of what we call reservoirs, which is basically a persistent virus that's in cells, Chahroudi said.

Dunham said that about five years ago, UNC and ViiV Healthcare came to the realization that they could make more substantial progress toward curing HIV by working together. In the years that followed, the institutions created Qura Therapeutics and the UNC HIV Cure Center to conduct research.

Emory University's HIV research team was added to further the partnership.

The overall principle here is that no one entity is really going to make that progress against HIV," Dunham said. "We feel like this partnership between industry and academia might help us to take these different and diverse approaches between the two types of organizations to work together to find an HIV cure."

Chahroudi said the next steps for the research include combining both of the latency-reversing strategies discovered at UNC and Emory to boost the immune response against the affected cells.

If were able to reawaken or reactive the virus and then treat the animals with different immune-boosting or aiding strategies, we hope that combination may have an impact on the level of virus reservoirs, Chahroudi said.

The goal for researchers at UNC is to make the chemical that treats latent cells into a drug that can be used in people, Margolis said.

university@dailytarheel.com

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UNC researchers contribute to breakthrough in HIV cure research - The Daily Tar Heel

As the 2019 novel coronavirus outbreak continues to spreadin China, researchers have found that people carrying the virus but not showingsymptoms may be able to infect others.

If infected people can spread 2019-nCoV while asymptomatic,it could be harder to trace contacts and contain the epidemic, which is alreadya globalhealth emergency (SN: 1/30/20).

An unnamed Shanghai woman passed the virus to businesscolleagues in Germanybefore she showed signs of the illness, doctors report January 30 in the New England Journal of Medicine. Thewoman had attended a business meeting at the headquarters of the auto supplierWebasto in Stockdorf on January 20 and flew back to China on January 22. Shebecame ill with mild symptoms on the flight back to China and tested positivefor the virus.

Meanwhile, one of her German colleagues fell ill on January24 with a fever, sore throat, chills and muscle aches. His illness was brief,and he returned to work on January 27, the same day that the woman informed thecompany she carried the virus. Nasal swabs and sputum, or phlegm, samples fromthe man contained high levels of the novel coronavirus even though his symptomshad passed.

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Three other employees of the company also tested positivefor the virus. Tracing their contacts, doctors conclude that the first man andanother person caught the virus from their Chinese colleague.

Whats also concerning is that the first man apparently passedthe virus to the other two coworkers, who both had contact with him before hedeveloped symptoms. All cases of the illness have been mild.

These cases suggest that people shed the virus before theyshow symptoms and after recovery from the illness, say Camilla Rothe, atropical medicine and infectious disease specialist at the University Hospital ofLudwig-Maximilians-Universitt in Munich, and her colleagues.

Asymptomatic spread, though common for influenza viruses forexample, would be a new trick for coronaviruses. The coronaviruses that causesevere acute respiratory syndrome, or SARS, and Middle East respiratorysyndrome, or MERS, are notcontagious before people show symptoms (SN:1/28/20).

Another coworker of the firm was confirmed to have the viruson January 30, and a child of one of the infected workers has also contractedthe virus, bringing the case count to six, health officials in the German stateof Bavaria said January 31. The company has closed its headquarters near Munichuntil February 2 and began testing contacts of the ill employees on January 29.

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The first case of coronavirus being spread by a person with no symptoms has been found - Science News