Category Archives: Genetic Medicine

BOSTON and DURHAM, N.C. and FT. MYERS, Fla., Feb. 04, 2021 (GLOBE NEWSWIRE) -- Parexel, a leading provider of solutions to accelerate the development and delivery of innovative therapies to improve world health, from clinical through commercialization, and NeoGenomics, Inc.(NASDAQ: NEO), a leading provider of cancer-focused genetic testing services and global oncology contract research services, today announced a strategic partnership to advance the application of precision medicine in oncology clinical trials by applying real-world genomics data to accelerate patient matching and optimize trial design, site selection, clinical development and translational research.

The collaboration with NeoGenomics will enhance Parexels use of real-world data across various applications, including identifying and estimating prevalence of genomic mutations within respective populations, genomic patterning to stratify patients according to novel biomarkers, and use of de-identified patient data to precisely target patient populations. Collectively these data are designed to better inform clinical trial feasibility, enhance patient matching and create a holistic view of the patient journey by linking genomic data with clinical and consumer datasets. The collaboration will ultimately enable researchers to quickly enroll patients with common to rare cancer mutations and connect them to clinical trials providing the best likelihood of potential treatment success.

Parexels partnership with NeoGenomics provides access to greater predictive modeling capabilities so that we can rapidly identify specific patients and connect them to clinical trials that provide them with the best potential for treatment, advance our understanding of their disease and identify the drugs effects and potential benefits, said Sy Pretorius, MD, President, Clinical Development and Chief Medical Officer at Parexel. This collaboration supports our efforts to adopt more novel approaches in the identification of data populations for oncology studies while keeping the patient at the center of everything we do.

We are thrilled to collaborate with Parexel to provide our robust genomic and clinical database to help match cancer patients to clinical trials and therapies that are precisely targeted to their unique tumor types and genomic biomarkers, said Douglas VanOort, NeoGenomics Chairman and Chief Executive Officer. We look forward to our strategic partnership and future opportunities to broaden our relationship based on customer needs in the oncology space.

The strategic partnership between Parexel and NeoGenomics will enable biopharmaceutical customers to make evidence-based decisions regarding trial designs, companion diagnostics and drug repurposing as well as to build external control arms using genomic data, ultimately providing cancer patients access to the most effective therapies when and where they need them. The companies are considering potential opportunities to expand the scope of the partnership, including lab services and biomarker capabilities.

About ParexelParexel supports the development of innovative new medicines to improve the health of patients. We provide services to help life science and biopharmaceutical clients worldwide transform scientific discoveries into new treatments. From clinical trials to regulatory and consulting services to commercial and market access, our therapeutic, technical and functional ability is underpinned by a deep conviction in what we do. Our Oncology Center of Excellence combines our early advisory core services of medical, regulatory, biostatistics and genomic/biomarker expertise with a multi-disciplinary team of oncology experts and key technology platform partnerships to bring your breakthrough treatments to market faster.

Parexel was named Best Contract Research Organization in December 2020 by an independent panel for Informa Pharma Intelligence. For more information, visit our website and follow us on LinkedIn, Twitter and Instagram.

About NeoGenomics, Inc.NeoGenomics, Inc. specializes in cancer genetics testing and information services, providing one of the most comprehensive oncology-focused testing menus in the world for physicians to help them diagnose and treat cancer. The Company's Pharma Services Division serves pharmaceutical clients in clinical trials and drug development.

Headquartered in Fort Myers, FL, NeoGenomics operates CAP accredited and CLIA certified laboratories in Fort Myers and Tampa, Florida; Aliso Viejo, Carlsbad and San Diego, California; Houston, Texas; Atlanta, Georgia; Nashville, Tennessee; and CAP accredited laboratories in Rolle, Switzerland, and Singapore. NeoGenomics serves the needs of pathologists, oncologists, academic centers, hospital systems, pharmaceutical firms, integrated service delivery networks, and managed care organizations throughout the United States, and pharmaceutical firms in Europe and Asia.

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Parexel and NeoGenomics Announce Strategic Collaboration in Precision Medicine to Improve Study Designs and Accelerate Patient Matching in Oncology...

Carrying too much body weight can lead to various health issues, including type 2 diabetes, high blood pressure, and cardiovascular disease.

A recent study examined how measuring an individuals BMI over time might help estimate their risk of disease and mortality later in life.

The scientists published their findings in the Annals of Epidemiology.

The impact of weight gain on mortality is complex. It depends on both the timing and the magnitude of weight gain and where BMI started, says Dr. Hui Zheng, the studys lead author and an associate professor of sociology at The Ohio State University in Columbus.

For the study, the researchers analyzed medical history data from the Framingham Heart Study (FHS), in which scientists tracked the health of three generations.

Removing the FHS participants with incomplete data left the team with 4,576 individuals from the original FHS cohort and 3,753 of the participants in the offspring cohort. The researchers further restricted their analysis to include only the individuals who were at least 31 years of age at the start of the study.

By 2011, 3,913 individuals from the original cohort and 967 individuals from the offspring cohort had died.

The researchers controlled for a variety of factors known to influence mortality, including smoking, education level, and sex.

After analyzing how the BMI of the participants evolved over the years, the researchers found that the older participants generally fell into one of seven BMI trajectories.

Among the second generation, however, there were just six BMI trajectories because few members of this group lost weight over the course of their life.

The researchers found that in both generations, those who had a healthy BMI early in adulthood and then gradually gained weight as they aged tended to live longer. However, this was only the case if they did not develop obesity.

The authors speculate that having a modest amount of extra body weight in old age may provide protection against issues such as nutritional deficiencies and loss of muscle and bone density due to chronic diseases.

Participants whose weight remained in the healthy range throughout their life had the second lowest mortality risk, followed by those who had overweight but stayed at that same weight over the course of their life. Next, came people with underweight and then, in the older generation, those who had overweight initially but lost weight as they aged.

The least likely to survive were people who had obesity in early adulthood and continued to gain weight.

The main message is that for those who start at a normal weight in early adulthood, gaining a modest amount of weight throughout life and entering the overweight category in later adulthood can actually increase the probability of survival, says Dr. Zheng.

The researchers found that the second generation developed overweight and obesity earlier in life than their parents.

The higher BMI trajectories in the younger generation tend to shift upward at earlier ages relative to their parents, Dr. Zheng says.

Due to medical advancements, the studys authors explain, people with obesity are more likely to survive now than they were in earlier decades.

However, Dr. Zheng cautions that this trend still has ramifications for society:

Even though the mortality risks associated with obesity trajectories have decreased across the generations, their contributions to population deaths increased from 5.4% in the original cohort to 6.4% in the offspring cohort.

The study supports the findings of a 2013 study by Dr. Zheng and others, which found that people who had overweight in their 50s but kept their weight relatively stable over the years were more likely to survive the next 19 years.

Now, with this study, Dr. Zheng says, we know more about weight trends earlier in life and how they are related to mortality.

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How weight gain over time may predict mortality - Medical News Today

Leukemia is a type of cancer that affects the blood. The two most common types in children are acute lymphoblastic leukemia and acute myelogenous leukemia.

In a person with leukemia, blood cells are released into the bloodstream before they are fully formed, so there are fewer healthy blood cells in the body.

Below, we describe the types of childhood leukemia, the symptoms, and the treatments. We then look at when to contact a doctor, what questions to ask, and where to find support.

Childhood leukemia is the most common form of cancer in children. It affects up to 3,800 children under the age of 15 in the United States each year.

Leukemia occurs when bone marrow releases new blood cells into the bloodstream before they are fully mature.

These immature blood cells do not function as they should, and eventually, the number of immature cells overtakes the number of healthy ones.

Leukemia can affect red and white blood cells and platelets.

The bone marrow produces stem cells. A blood stem cell can become a myeloid stem cell or a lymphoid stem cell.

Lymphoid stem cells become white blood cells. Myeloid stem cells can become:

Leukemia is typically acute or chronic, and chronic types are rare in children. They can include chronic myeloid leukemia or chronic lymphocytic leukemia.

Most childhood leukemias are acute, meaning that they progress quickly and need treatment as soon as possible.

Acute lymphoblastic leukemia (ALL) is the most common type in children, accounting for 75% of childhood leukemia cases.

It affects cells called lymphocytes, a type of white blood cell.

In a person with ALL, the bone marrow releases a large number of underdeveloped white blood cells called blast cells. As the number of these increases, the number of red blood cells and platelets decreases.

There are two subtypes of ALL: B-cell and T-cell.

In most childhood cases of ALL, the cancer develops in the early forms of B-cells. The other type, T-cell ALL, typically affects older children.

Research from 2020 reports that the majority of people diagnosed with ALL are under 18 and typically between 2 and 10 years old.

The American Cancer Society report that children under 5 years old have the highest risk of developing ALL and that this risk slowly declines until a person reaches their mid-20s.

The outlook for ALL depends on the subtype, the persons age, and factors specific to each person.

Myeloid leukemias account for approximately 20% of childhood leukemia cases, and most myeloid leukemias are acute.

Acute myelogenous leukemia (AML) affects white blood cells other than the lymphocytes. It may also affect red blood cells and platelets.

AML can begin in:

Juvenile myelomonocytic leukemia (JMML) accounts for approximately 12% of leukemia cases in children.

This rare type is neither acute nor chronic. JMML begins in the myeloid cells, and it typically affects children younger than 2 years.

Symptoms can include:

The symptoms of leukemia may be nonspecific similar to those of other common childhood illnesses.

A doctor will ask how long the child has been experiencing the symptoms, which can include:

Children may experience specific symptoms depending on the type of blood cell that the leukemia is affecting.

A low number of red blood cells can cause:

A low number of healthy white blood cells can cause infections or a fever with no other sign of an infection.

A low platelet count can cause:

Various factors can increase a childs risk of leukemia, and most are not preventable.

The following genetic conditions can increase the risk of leukemia:

Also, having a sibling with leukemia may increase the risk of developing it.

These can include exposure to:

If a child has symptoms that might indicate leukemia, a doctor may perform or request:

A bone marrow aspiration involves using a syringe to take a liquid sample of bone marrow cells. The doctor may give the child a drug that allows them to sleep through this test.

During the diagnostic process, a person might ask:

The doctor may recommend a variety of treatments for childhood leukemia, and the best option depends on a range of factors specific to each person.

The treatment usually consists of two phases. The first aims to kill the leukemia cells in the childs bone marrow, and the second aims to prevent the cancer from coming back.

The child may need:

Before or during treatment, a person might ask the doctor:

Questions to ask after the treatment might include:

Children who have undergone leukemia treatments require follow-up care, as the treatments often cause late effects.

These can develop in anyone who has received treatment for cancer, and they may not arise for months or years after the treatment has ended.

Treatments that can cause late effects include:

These complications may affect:

The late effects that may come can also depend on the type of treatment and the form of leukemia.

Because many leukemia symptoms can also indicate other issues, it can be hard to know when to contact a doctor.

Overall, it is best to seek medical advice if a child shows symptoms or behaviors that are not normal for them.

If a child has received a leukemia diagnosis, the effects can extend to parents, other family members, caregivers, and friends.

A person can find support and additional resources from:

The following organizations based in the United Kingdom also provide support and guidance:

Childhood leukemia can affect mental health, as well as physical health.

Learn more about mental health resources here.

According to the American Cancer Society, most children with leukemia have no known risk factors. There is no way to prevent leukemia from developing.

Because there are very few lifestyle-related or environmental causes of childhood leukemia, it is very unlikely that a caregiver can do anything to help prevent the disease.

A childs outlook depends on the type of leukemia. It is important to keep in mind that current estimates do not take into account recent advances in technology and medicine.

For example, the most recent 5-year survival rate estimates reflect the experiences of children who received their diagnoses and treatments more than 5 years ago.

The American Cancer Society report that the 5-year survival rate for children with ALL is 90%. The same rate for children with AML is 6570%.

Childhood leukemia is typically acute, which means that it develops quickly. As a result, a person should contact a doctor if they notice any of the symptoms.

The most common type of childhood leukemia is ALL, representing 3 out of 4 leukemia cases in children.

Treatment may include a combination of chemotherapy, targeted drugs, immunotherapy, stem cell transplants, surgery, and radiation.

The prognosis depends on the type of leukemia and the childs age.

This diagnosis can affect mental as well as physical health, and the effects can extend to caregivers, family members, and friends. Many different resources are available for support.

Excerpt from:
Leukemia in children: Symptoms, causes, treatment, outlook, and more - Medical News Today

In 1775, Gen. George Washington was fighting two enemies. His visible enemy was the British, with whom the Colonists had begun fighting at the battles of Lexington and Concord. Washingtons second enemy was invisible, but deadlier than British muskets: smallpox.

A smallpox epidemic threatened Washingtons Continental Army. Fortunately, Washington had experience with the disease (he had caught and survived smallpox while in the Caribbean Islands) and sought to have his troops inoculated.

Inoculation was new and controversial in Colonial America, even outlawed in places. It didnt help that the method of inoculation practiced at the time was risky. Called variolation, the procedure entailed making a small incision in a patients arm and inserting a dose of the live virus large enough to trigger immunity but small enough to prevent severe illness or death, writes Andrew Lawler in an April 2020 National Geographic article.

But Washington was a firm believer in the science-based treatment. While soldiers already in the army were given a choice (and many refused), Washington insisted that all new recruits be inoculated. By the end of 1777, some 40,000 soldiers had been vaccinated.

A compelling case can be made that his (Washingtons) swift response to the smallpox epidemic and to a policy of inoculation was the most important strategic decision of his military career, Lawler quotes historian Joseph Ellis as saying.

This story touches on the dilemma of immunization as a medical treatment. On the one hand, vaccines have saved millions of lives. Yet despite being applauded as a medical miracle, vaccines have always generated a level of public distrust.

This is not a new problem. It has waxed and waned ever since weve had vaccines, said Dr. Christopher Martin, a professor in the West Virginia University Schools of Public Health and Medicine. Martin also serves on the West Virginia COVID-19 Vaccine Medical Advisory Group.

When it comes to vaccine hesitancy, people fall along the spectrum. At one end are people like me, who love vaccines. Whenever a new vaccine comes up thats indicated for me, I get it right away, Martin said.

Theres another group at the other end of the spectrum that are completely resistant to any kind of data or argument. Theres nothing you can say. As my Irish father used to put it, you might as well save your breath to cool your porridge.

But most people fall somewhere in the middle. These are the ones Martin tries to reach. Calling someone anti-science isnt helpful, he said. We have to tailor the message. In focus groups it came out that West Virginians concern is I dont want to be told to have this vaccine. They are concerned about personal liberties.

Thats why our theme for the COVID vaccine is that its a choice. We try to get people to understand what a powerful decision they can make to protect themselves.

A brief look at how vaccines developed in this country can shed light on the present cultural divide.

While variolation can be traced back to ancient China, it is Edward Jenner who is generally credited with devising the first vaccine. In 1796, he inoculated a 13-year-old boy with the vaccinia virus (cowpox) and demonstrated that it gave immunity to smallpox. The practice quickly became widespread.

Louis Pasteur began experimenting with attenuated vaccines in the late 1800s. Attenuation takes an infectious pathogen (a bacteria or virus) and makes it less virulent. Although weakened, the pathogen is still viable.

Pasteur developed a rabies vaccine in 1885. His research led to other attenuated vaccines, including ones for cholera, anthrax, measles, mumps, rubella and yellow fever.

Attenuated vaccines are in contrast to inactivated vaccines where a killed, nonviable version of the germ is used. Generally, inactivated vaccines do not provide long-term immunity; additional shots could be necessary (the annual flu shot is an example).

Over the next 200 years, mass implementation of the smallpox vaccine led to the disease being eradicated globally in 1979 one of the greatest successes of modern medicine.

Research for a polio vaccine began in the 1930s. Jonas Salk was the first virologist to become a celebrity after he developed an inactivated polio vaccine in 1954.

Polio is a disabling disease caused by the poliovirus. It can infect a persons spinal cord, causing paralysis and sometimes death.

Children are especially vulnerable, and 1950s American families were terrified of the disease. It was said fear of polio was second only to fear of the atom bomb. An epidemic in 1952 resulted in more than 21,000 paralytic cases and more than 3,000 deaths, according to the Centers for Disease Control.

In 1955, a nationwide polio inoculation campaign began for schoolchildren, sponsored by the March of Dimes. But the campaign was quickly suspended when it was discovered that Cutter Laboratories in California had produced defective batches of the vaccine.

Cutter was one of five companies producing the polio vaccine. A flaw in the labs manufacturing process led to batches of vaccine being distributed where the virus was not inactivated. As a result, more than 200,000 children received a polio vaccine that contained live, viable virus. It was later determined that the faulty batches caused an estimated 40,000 cases of polio, with about 200 cases leading to paralysis. Ten children died.

As tragic as these numbers were, they were a small fraction of the casualties caused by natural polio each year during this period.

The incident led to tighter federal regulations overseeing the production of vaccines. Pharmaceutical companies made improvements to their production processes and applied more rigorous safety testing. The inoculation campaign was resumed and polio cases began to drop.

The Salk vaccine was later replaced by an oral attenuated vaccine. Many of the Baby Boom generation remember lining up as schoolchildren in the 1960s to swallow a sugar cube dosed with the polio vaccine.

By 1979, there were no new cases of polio originating in the United States. The World Health Organization and other groups are still working to eradicate polio globally.

Not surprisingly, Cutter Laboratories was taken to court over its botched rollout of the vaccine. In the landmark case they were declared not at fault, but still liable for their product. This liability without negligence decision would have major repercussions for the pharmaceutical industry.

Dr. Paul A. Offit addressed the mixed legacy of this legal precedent in his 2005 book, The Cutter Incident: How Americas First Polio Vaccine Led to the Growing Vaccine Crisis. He contends that the verdict in the court case against Cutter made vaccine manufacturers an easy target for litigation and huge monetary awards from juries.

Such litigation persisted despite overwhelming consensus from the scientific and health communities that vaccines were low risk and that adverse effects were rare. Pharmaceutical companies began to shy away from vaccine research and manufacturing because of liability issues.

Pharmaceutical and biotech companies continued to be hauled into court throughout the 1970s and 1980s, and supplies were threatened. By 1985, for example, only one company was still making the pertussis vaccine (for whooping cough) a critical vaccine for childhood safety.

Vaccines were the first medical product almost completely eliminated by litigation, Offit said, discussing his book in an American Enterprise Institute video in 2006.

Congress saw that action was needed to protect vaccine manufacturers and health care providers and passed the National Childhood Vaccine Injury Act in 1986, which included the National Vaccine Injury Compensation Program.

This law created a special vaccine court to handle disputes and shield vaccine manufacturers from most lawsuits. The law was upheld in a Supreme Court ruling in 2011.

Despite this protection, vaccine shortages became an intermittent problem. Offit gives more examples. In 1998, the tetanus vaccine was in such short supply that its use was restricted to emergency rooms. The flu season of 2003-2004 began early and created a demand that exceeded supply. The following year proved even worse with 30 million fewer doses of flu vaccine than the year before.

There have been shortages of nine of the 12 vaccines routinely given to children including the vaccine for meningitis (pneumococcus).

Parents could only hope that their children werent among the thousands permanently harmed or killed by pneumococcus every year, Offit writes.

Lyme disease is a bacterial infection transmitted to humans through the bites of certain types of ticks. Symptoms include fever, fatigue, joint pain and rash. Left untreated, the disease can lead to serious joint and neurological complications. The CDC says cases are on the rise. EPA studies show that climate change is likely a factor in increasing the range of ticks that carry infection.

Only one company has ever marketed a Lyme disease vaccine. SmithKline Beecham (now GlaxoSmithKline) licensed the LYMErix vaccine in 1998, and would end up distributing some 1.5 million doses.

Anecdotal reports surfaced of people who said they developed arthritis after getting the vaccine. Lyme disease itself can cause chronic arthritis, but controlled case studies did not show a higher incidence of arthritis as an adverse effect of the vaccine.

An advisory panel by the Food and Drug Administration confirmed this conclusion, as did a report from the National Institute of Allergy and Infectious Diseases, which concluded that the rate [of arthritis] was not shown to be elevated among vaccine recipients.

According to CDC statistics, some 23% of adults in the U.S. get some form of arthritis (in West Virginia, the figure is 33.6%). In all likelihood, the people who developed arthritis would have done so regardless of whether they received the vaccine or not.

Even though no credible evidence surfaced to link the vaccine to these claims, that didnt stop anti-Lyme vaccine groups from forming or media outlets from carrying their anti-vax message to the general public. A class action lawsuit was filed on behalf of 121 people.

It was a fiasco that has really never occurred to any other vaccine, said Dr. Stanley Plotkin, an emeritus professor of pediatrics at the University of Pennsylvania and veteran vaccine researcher, in a 2019 Scientific American article.

With demand dampened by the distrust and backlash, the company pulled the LYMErix vaccine from the market in 2002. Today, 20 years later, there still is no available human vaccine for Lyme disease.

While Lyme disease is not deadly, the same cant be said of COVID-19. But a significant segment of the population is showing hesitancy over receiving either of the two COVID-19 vaccines currently being distributed.

Advances in immunology, microbiology and molecular genetics have led to new categories of vaccines in recent years. Both the Pfizer/BioNTech and Moderna COVID-19 vaccines approved by the FDA for emergency use are made from messenger RNA (mRNA).

These vaccines are different from traditional vaccines discussed above, in that they do not contain either weakened attenuated virus or inactivated virus proteins.

Instead, mRNA uses synthetic genetic material that encodes a harmless piece of viral protein in this case, the spike protein in the SARS-CoV-2 coronavirus.

The synthetic mRNA issues this code to the bodys cells and teaches them to build the protein, which triggers the bodys immune response, the same as with a natural infection. This builds up our immunity to the virus. How long this immunity will last is still unknown.

The Pfizer and Moderna vaccines are the first mRNA vaccines to advance through all the clinical trial stages and be approved for use.

These vaccines use a new platform [mRNA], but theres no additional risk, Martin said. Long before COVID came out, we had done the science. All the pioneering work has been done.

In fact, research into mRNA vaccines has been ongoing for decades. If there was a real problem with the technology, wed have seen it before now for sure, said Michael Goldman, a professor of immunology and director of the Innovative Medicines Initiative, in Horizon, a European Union research and innovation publication.

Some people have expressed concerns, not with the mRNA platform as such, but with the compressed time frame in which COVID-19 vaccines were rushed into production.

But one of the advantages of the mRNA platform is speed. It takes far less time to produce a synthetic mRNA vaccine than with traditional vaccines.

Also, as Martin points out, in this case the companies began manufacturing the vaccines before clinical trials were completed. They did steps in parallel, which was a financial risk, not a safety risk, Martin said.

There is nothing different about the clinical studies that were done. Ive had both doses. The only negative experience for me is knowing its not yet available for more people.

Martin adds that psychological considerations come into play surrounding vaccine hesitancy. Nothing is risk free, he said. But we arent very good at perceiving risk accurately. Subjectively, doing nothing feels safer. People feel that doing something making a choice to get the vaccine is more risky. But it is clear that if you dont get vaccinated, you are at greater risk.

After releasing its instructions to the cells, the mRNA is quickly broken down by enzymes and does not enter the nucleus of a cell. Its not DNA. It has nothing to do with your genetic material, Martin said. And its not possible to get COVID from the vaccine.

Allergic reactions are possible, but very, very rare. If it happens, a reaction is entirely manageable. Vaccination clinics are easily equipped to handle that.

Some people have reported mild symptoms, particularly after the second shot. In a statement, the FDA said that the most commonly reported side effects, which typically lasted several days, were pain at the injection site, tiredness, headache, muscle pain, chills, joint pain, and fever ... more people experienced these side effects after the second dose than after the first dose.

But Martin takes issue with calling these side effects. You might feel unwell or have a low-grade fever, he said. Thats not a side effect thats the primary effect. Thats just your immune system at work. It means you are going to be one of the 95% who are protected.

Scientists question whether COVID-19 will ever be eradicated, as with smallpox, or even largely eliminated, as with polio. What is certain is that, whatever happens, vaccines and the publics willingness to trust them will play a major role.

Ultimately, overcoming a pandemic isnt just about science. Its about culture and the perceptions that people bring to science.

See original here:
The mistrusted medical miracle: Vaccines have revolutionized health, but some still question their safety - Charleston Gazette-Mail

Mutations Commonly Linked to Breast Cancer Found to Pose No Increased Risk

Several genetic mutations previously linked to breast cancer and included on commercial genetic tests, including direct-to-consumer tests, were found not to increase a womans risk of disease, according to a population study of more than 64,000 women published online on January 20, 2021 in theNew England Journal of Medicinefrom several institutions, includingPenn Medicine. The findings show that risks associated with mutations for women in the general population are often lower than previous estimates, and, importantly, provide new insights informing the debate over whom should be recommended for genetic testing.

Penn Medicine authors on the paperwhich analyzed data from the CARRIERS study, or CAnceR RIsk Estimates Related to SusceptibilityincludeKatherine L. Nathanson, deputy director of the Abramson Cancer Center and the Pearl Basser Professor for BRCA-Related Research in thePerelman School of Medicine at the University of Pennsylvania,andSusan M. Domchek,executive director of theBasser Center for BRCAat the Abramson Cancer Center. Fergus J. Couch, of the Mayo Clinic, was the papers senior author.

According to past estimates, seven to ten percent of women with breast cancer carry pathogenic variants in genes associated with an increased risk. However, that statistic is based largely on studies of high-risk women, including those with a family history or a young age at the time of their cancer diagnosis.

This studythe first to look at a large group of women of different ages from the general populationsuggests that the frequency of pathogenic variants in genes associated with breast cancer risk among women in the general population is five percent. Further, of the 28 breast cancer genes studied, only 12 had clear evidence of associated cancer risk.

Recommendations for genetic screening vary, from testing all patients for genes associated with breast cancer to testing affected and unaffected women based on risk stratification. Many commercially available hereditary genetic tests also include a slew of genes that now appear, based off these findings, to not increase risk, which has the potential to lead to the delivery of misinformation, as well as affect treatment decisions.

This multi-institutional, collaborative study shows us a clearer picture of risk and genetic drivers for women in the general population who dont fall under the high-risk category, Dr. Domchek said. As discussions continue regarding the role of population screening, the CARRIERS data support careful gene selection.

For more information, visit https://tinyurl.com/BCmutations

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Mutations Commonly Linked to Breast Cancer Found to Pose No Increased Risk - UPENN Almanac

Dublin, Feb. 02, 2021 (GLOBE NEWSWIRE) -- The "Precision Medicine Market - Forecasts from 2021 to 2026" report has been added to ResearchAndMarkets.com's offering.

The precision medicine market is evaluated at US$60.422 billion for the year 2020 growing at a CAGR of 8.79% reaching the market size of US$100.168 billion by the year 2026.

Increasing Chronic Diseases

The market is expected to be driven by the growth and surge in several chronic diseases such as cardiovascular diseases, obesity, and other related diseases. According to the World Health Organization, Cardiovascular diseases are one of the major causes of deaths, globally, every year. In 2016, an approx. 17.9 million people died from cardiovascular diseases, which represented approx. 31% of global deaths. Most of these deaths were due to different types of strokes and heart attacks. Precision Medicines have been quickly moving towards real-world clinical features, and various scientific and research organizations, have been looking at different strategies to apply medicine to chronic disease management. Alzheimer's and other related cognitive disorders are among some of the most frequent chronic diseases, which has been making a major impact on individuals, globally. According to the Alzheimer's Association, approx. 5.8 million Americans, have been living with this chronic disease. And, according to the estimation, the number is projected to increase to approx. 14 million, by the year 2050.

There have been various developments in this market when it comes to cognitive disorders. In recent years, Scientists discovered at the University of Buffalo, that a human gene, which is present in 75% of the American population, is one of the major reasons why a section of Alzheimer's Disease medicine or a drug, fails in human studies, despite showing promising results in animal studies. This is expected to be one of the factors in the growth of Precision Medicine, over conventional medicines. Diabetes is also one of the major reasons, which is expected to drive precision market growth. The National Institute of Diabetes and Digestive and Kidney Diseases, made precision medicines and drugs a major priority, for the institute's Diabetes Genomics and Genetics Program. The program has aimed to identify the intergenic regions and genes that provide protection, against type 1 or 2 diabetes.

Other major organizations have also been applying precision medicine techniques and technology for diabetes treatment. Massachusetts General Hospital discovered that the interventions, which had been focussed on individuals' genetic profiles and data, had been able to reduce the risk of type 2 diabetes. The Louisiana Health system performed around 300,000 virtual visits in the year 2020. The health system which is also known as Ochsner Health, provides digital health programs and solutions, to its patients. The Ochsner made substantial investments in the last four years, in developing direct to consumer telemedicine care services and delivery. The Ochsner will also develop telehealth for ICU, psychiatry, and stroke in the next decade.

Precision Medicine In Cancer Treatment

Precision Medicine is also known as personalized medicine, as doctors select this medicine based on a genetic understanding of the patient. The market is expected to be driven by the use of precision medicines for cancer treatment. According to the World Health Organisation, Cancer is the second major cause of death, worldwide. Cancer killed an estimated number of 9.6 million people, in the year 2018. There has been approx. 70% of deaths from cancer, in lower and middle-income countries.

There are several infections caused by cancer such as HPV, Hepatitis B Virus, C virus, and others. Precision medicine could be used to treat cancer, as there are genetic changes constantly occurring in a person's cancer problem. Scientists have been working to identify and conduct genetic tests, which would be used to decide the treatment of a person's cancer or a tumor. In January 2021, Researchers from the John Hopkins Kimmel Cancer Centre, The John Hopkins Departments of Oncology and Pathology, and other 18 organizations around Poland and the United States, compiled a database of neck and head cancers, which would be used to speed up the development and production of precision medicine therapies. With the collected database, the researchers got the clarification of key cancer-associated proteins, genes, which resulted in the advancement in the pathway of these cancers. Precision medicines will also be used for oncology, as major companies have been making developments in advancement and innovation.

In January 2021, Illumina, one of the major players in the market, announced an expanded and novel oncology partnership with Merck, Myriad Genetics, Kura Oncology, Bristol Myers Squibb, to advance a complete and detailed genomic profiling. Genetic sequencing is a major part of precision medicine, and this partnership would result in the advancement of novel and innovative precision medicines.

Current Trends

Segmentation

By Technology

By Application

By Geography

Key Topics Covered:

1. Introduction1.1. Market Definition1.2. Market Segmentation

2. Research Methodology2.1. Research Data2.2. Assumptions

3. Executive Summary3.1. Research Highlights

4. Market Dynamics4.1. Market Drivers4.2. Market Restraints4.3. Porters Five Forces Analysis4.3.1. Bargaining Power of End-Users4.3.2. Bargaining Power of Buyers4.3.3. Threat of New Entrants4.3.4. Threat of Substitutes4.3.5. Competitive Rivalry in the Industry4.4. Industry Value Chain Analysis

5. Precision Medicine Market Analysis, By Technology5.1. Introduction5.2. Data Analytics5.3. Bioinformatics5.4. Gene Sequencing5.5. Others

6. Precision Medicine Market Analysis, by Application6.1. Introduction6.2. Oncology6.3. Central Nervous System6.4. Immunology6.5. Cardiovascular6.6. Others

7. Precision Medicine Market Analysis, by Geography7.1. Introduction7.2. North America7.2.1. North America Precision Medicine Market, By Technology, 2021 to 20267.2.2. North America Precision Medicine Market, By Application, 2021 to 20267.2.3. By Country7.2.3.1. USA7.2.3.2. Canada7.2.3.3. Mexico7.3. South America7.3.1. South America Precision Medicine Market, By Technology, 2021 to 20267.3.2. North America Precision Medicine Market, By Application, 2021 to 20267.3.3. By Country7.3.3.1. Brazil7.3.3.2. Argentina7.3.3.3. Others7.4. Europe7.4.1. Europe Precision Medicine Market, By Technology, 2021 to 20267.4.2. Europe Precision Medicine Market, By Application, 2021 to 20267.4.3. By Country7.4.3.1.1. Germany7.4.3.1.2. France7.4.3.1.3. UK7.4.3.1.4. Others7.5. Middle East and Africa7.5.1. Middle East and Africa Precision Medicine Market, By Technology, 2021 to 20267.5.2. Middle East and Africa Precision Medicine Market, By Application, 2021 to 20267.5.3. By Country7.5.3.1. Saudi Arabia7.5.3.2. UAE7.5.3.3. Others7.6. Asia Pacific7.6.1. Asia Pacific Precision Medicine Market, By Technology, 2021 to 20267.6.2. Asia Pacific Precision Medicine Market, By Application, 2021 to 20267.6.3. By Country7.6.3.1. China7.6.3.2. India7.6.3.3. Japan7.6.3.4. South Korea7.6.3.5. Others

8. Competitive Environment and Analysis8.1. Major Players and Strategy Analysis8.2. Emerging Players and Market Lucrativeness8.3. Mergers, Acquisitions, Agreements, and Collaborations8.4. Vendor Competitiveness Matrix

9. Company Profiles9.1. Thermo Fisher Scientific Inc.9.2. AstraZeneca plc9.3. F. Hoffmann-La Roche Ltd9.4. Pfizer Inc.9.5. Nordic Bioscience A/S9.6. Medtronic9.7. Novartis AG9.8. QIAGEN9.9. Quest Diagnostics Incorporated9.10. Bristol Myers Squibb

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Link:
Insights on the Precision Medicine Global Market to 2027 - Featuring Thermo Fisher Scientific, AstraZeneca & Pfizer Among Others - GlobeNewswire