Archive for the ‘Genetic Testing’ Category

GeneDx, a global leader in genomics andpatient testing, is celebrating its remarkable 20th anniversary throughout themonth of March.

The Gaithersburg, Maryland company has played an important role in the history of genetic sequencing and the rise of the BioHealth Capital Region as a global biohealth cluster. GeneDx was the very first company to commercially offer NGS (Next Generation Sequencing) testing in a CLIA (Clinical Laboratory Improvement Amendments) lab and has been at the leading edge of genetic sequencing and testing for two decades. The companys whole exome sequencing program and comprehensive testing capabilities are world-renowned.

In its storied 20 yearhistory, GeneDx has provided genetic testing to patients in over 55 countries.The company is known globally as world-class experts in rare and ultra-rarediseases.

In 2000, GeneDx was founded by former National Institutes of Health (NIH) scientists Dr. Sherri Bale and Dr. John Compton. These two genomics experts and thought leaders started GeneDx to complete an important mission: To provide rare and ultra-rare disease patients and families with diagnostic services that were not commercially available at that time.

Prior to launching GeneDx, Bale spent 16 years at NIH, the last nine as Head of the Genetic Studies Section in the Laboratory of Skin Biology. She has been a pioneer during her storied career, publishing over 140 papers, chapters and books in the field. Her 35-year career includes deep experience in clinical, cytogenetic, and molecular genetics research.

Before partnering with Bale to form GeneDx, Compton was an investigator at the Jackson Laboratory, and for the last nine years as a senior scientist in the Genetics Studies Section at the NIH. Comptons work on the molecular genetics of inherited skin disease and expertise in laboratory methodology is known throughout the world. Compton has remarkable experience in the development and application of molecular biological techniques to answer questions about genetics and epidermal differentiation.

GeneDx, like manysuccessful BHCR life science companies, had a humble start, operating initiallyout of the Technology Development Center incubator. Just six years later,GeneDx was acquired by BioreferenceLabs for approximately $17M.

From there, the companylaunched its first array CGH (Comparative Genomic Hybridization) or aCGH testin 2007. An array CGH is also called microarray analysis, which is a atechnique enabling high-resolution, genome-wide screening of segmental genomiccopy number variations (NIH). By 2008, GeneDx had launched its Cardiology NextGeneration Sequencing Panel and by 2011 the company had commercialized itsneurology testing program. In 2012, GeneDx launched its Whole Exome Sequencing (XomeDx) for which it has become so well known in the genomicfield. A year later its Inherited Cancer Panels hit the market. 2018 saw thecompany achieve a significant milestone when it announced ithad performed clinical Exome Sequencing on more than 100,000 individuals.

Both Bale and Comptonhave since retired and GeneDx is currently led by Chief Medical Officer Dr. Gabriele Richard;Chief Innovation Officer Kyle Retterer, MS;Rhonda Brandon, MS

Chief InformationOfficer; and Dr. Sean Hofherr, FACMG, CLIA Laboratory Director & ChiefScientific Officer.

GeneDx has come a longway from its incubator headquarters over the past two decades. With over 450employees, the company continues to deliver on its mission to provide crucialdiagnostic genetic testing capabilities to patients and families across theglobe.

Happy Anniversary GeneDX. Heres to many more.

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GeneDx Celebrates 20 Year History as Pioneer In Genetic Sequencing and Testing - BioBuzz

Could public health in India be better served by genome testing tailored specifically to the Indian population? The answer could be yes.

Diagnostic techniques have been built and developed for the developed markets so obviously, the cost structure is accordingly, argued Nikhil Jakatdar, chief executive officer (CEO) of GenePath Diagnostics in an interview with the Economic Times. The relevance of this test has been designed for the Caucasian population and so to bring it to India the challenge involves around how you make it relevant to the Indian genome.

This raises an important question. Given the genetic diversity of India, how can genetic testing kits tailored for the use on European genomes be fully optimised for testing within India? Keeping this in mind, to what extent would genetic testing kits built specifically with India in mind benefit Indias medical system?

The first study resulting from the GenomeAsia 100K project has revealed that Asia has at least ten distinct genetic ancestral lines, compared to the single genetic lineage found in northern Europe. Indias population is diverse, with many different ancestral lines in different regions. As such, genetics vary significantly across the country, meaning a single Indian genetic test would be an improvement on current testing methods, but would likely need a more tailored approach.

India represents almost twenty percent of the worlds population and is anticipated by some to become the worlds most populous nation in the coming decade. Despite this only 0.2 percent of fully mapped genomes in global databanks are of Indian origin.

However, despite Indias minuscule representation within global gene databases, numerous genes have been discovered among the Indian population that predispose individuals to certain diseases. A previous example of this was the finding that the Indian population has a high prevalence of a number of genes that are implicated as risk factors for diabetes. Some of these genes were found to be unique to the Indian subcontinent, indicating a unique risk factor to the Indian population. Knowledge of such genetic traits can allow for the healthcare system to adapt and focus on prevention in a way that is more effective among at-risk populations.

Tailoring genome testing to Indias population can allow for the tests to make note of these unique risk factors, granting far better accuracy when assessing an individuals chances of developing a condition in the future.

As Jakatdar notes in the interview, a lot of tests have been built from ground up through pure R&D [research and development] by us here [in India] so that is the huge milestone when you can actually create tests for Indian market built in India by companies in India. Many of these tests were designed for the US market, however, given the capacity for both research and production of new genetic testing products are already in the domestic market. The development of tests specifically for India is not a far-flung eventuality, but a very real possibility in the coming years.

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India-specific genome tests: The future of healthcare - Hyderus Cyf

At age 42, Amy Klein had already suffered three miscarriages and gone through several rounds of IVF. She wasnt done trying to have a baby. But she worried that her age likely meant that her eggs had chromosomal abnormalities that kept her from getting pregnant.

So starting in 2012, the health reporter opted for a controversial addition to the fertility toolkit: She went through four rounds of additional egg retrieval, and had those embryos frozen and genetically analyzed for abnormalities.

The basic in vitro fertilization (IVF) process kick-starts embryo formation by fertilizing an egg, or many, with sperm in a petri dish. Kleins plan was to add an optional and costly method called preimplantation genetic testing (PGT), to look for the most viable embryos in the bunch. Once the embryo reaches a stage called a blastocyst, technicians take a handful of cellssix or seven, aboutto test them for genetic abnormalities that could result in disease or miscarriage.

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The potential pitfalls of an IVF add-on - Quartz

What Afrofuturism does is trouble the notion that time only moves in one direction. Eve Ewing, sociologist, poet, and visual artist from Chicago

1. a movement that imagines alternate realities and futures from a Black cultural and political perspective

Afrofuturism responds to the substantial absence of people of color in speculative art and fiction. As Ytasha L. Womack writes in her 2013 book chronicling the evolution of Afrofuturism in science fiction and fantasy, Even in the imaginary future people cant fathom a person of non-Euro descent. Given the role these genres now play in our collective political and social imagination, Afrofuturism offers a glimpse of a future with Black people not only present, but inhabiting worlds where science and technology speak directly to the Black experience. The term itself wasnt coined until the 1990s, but decades earlier, Black artists had already begun fusing the traditions and cultures of the African diaspora with stories and imagery centered on technological innovation and space exploration. Pioneering science fiction writer Octavia Butler began penning novels inthe 1970s featuring African American protagonists grappling with social hierarchies, trauma and the legacy of slavery. Now, Ava DuVernay is reportedly adapting for television Butlers novel Dawn, about a Black woman resurrecting the human race after nuclear fallout.

Yes, the comic book series and hit 2018 film is perhaps the most popular example of Afrofuturism. Utopian Wakanda is based on an alternative history of an imaginary African nation. Having escaped colonization, Wakanda develops intothe most technologically advanced society in the world and must consider its responsibilities to those outside its borders. But Afrofuturism is having a huge pop culture moment right now, too, from Janelle Mones Metropolis albums (featuring the singers android alter ego) to Beyoncs Lemonade.

As a philosophy of history and science, Afrofuturism can actually help unearth and re-envision the past. The work of sociologist Alondra Nelson, who researches the intersection of race with health and science, is often described as Afrofuturist. Her 2016 book, The Social Life of DNA: Race, Reparations and Reconciliation After the Genome, explores how genetic testing revealed new origins and histories of enslaved Africans and their descendants. Some Afrofuturists have emphasized that race is itself a technologya false narrative deployed for centuries as a tool of oppression and control. Afrofuturism opens the space to imagine what Black futures might look like outside this history of colonization and white supremacy.

This is part of The Big Idea, a monthly series offering brief introductions toprogressive theories, policies, tools and strategies that can help us envision a world beyond capitalism. For recentIn These Timescoverage of liberatory Black art and the power of speculative fiction, see, Black Panther Engages with Decades of Black Liberatory TheoryAnd Is Also a Great Movie, The Climate Crisis Is Mind-Boggling. Thats Why We Need Science Fiction, and Sorry To Bother You Is the Anti-Capitalist Black Comedy Weve Been Waiting For.

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The Big Idea: Afrofuturism - In These Times

People walk towards a Covid-19 Assessment Centre at Michael Garron Hospital, in Toronto, on March 15, 2020.

Christopher Katsarov/The Globe and Mail

The words on the sixth page of Ontarios pandemic plan for cancer patients are dry and bureaucratic, but there is no mistaking their weight.

In the event of a widespread pandemic, the document warns, it is realized that even all Priority A patients might not receive prompt treatment.

Priority A is how Cancer Care Ontario, now part of the superagency Ontario Health, describes in a pandemic plan patients whose pain is unbearable or whose situation is immediately life-threatening. The plan was sent to vice-presidents of regional cancer services across the province last week.

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Updated on March 10 as the Canadian health-care system prepared for outbreaks of the new coronavirus, Cancer Care Ontarios plan provides a glimpse of what could happen to some of the countrys most vulnerable patients as COVID-19 spreads further.

At the Princess Margaret Cancer Centre, Canadas largest, oncologists are already combing through their files, searching for appointments that can be postponed.

All of our clinicians are looking at their patient volumes and looking at who might be able to have appointments pushed out if theyre for long-term follow-up [and] who might we be able to move to a virtual assessment," said Marnie Escaf, senior vice-president and executive lead at Princess Margaret, part of Torontos University Health Network.

However, the cancer centre has not yet had to take the more serious steps outlined in the pandemic plan, a copy of which was obtained by The Globe and Mail.

First to go would be long-term follow-up appointments for cancer survivors, routine screening for breast, colon and cervical cancer, genetic testing related to cancer, and clinics for patients with non-melanoma skin cancer, according to the document.

Cancer patients would be divided into priorities A, B and C, with patients in the C category the least likely to need and to receive treatment or surgery right away.

A surgical patient with an obstruction or bleeding that requires immediate surgery would count as priority A, as would patients who had been receiving chemotherapy or radiation to shrink a tumour before surgery.

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Most patients with solid tumours would count as priority B, provided delays were in the range of 4 weeks."

Patients with some thyroid cancers, early prostate cancer and non-melanoma skin cancers would be relegated to priority C.

Patients who disagreed with their category would have the option of appealing to a local appeals committee made up of the Medical Director, the relevant Program Director, a bioethicist if available and others felt relevant to the particular decision.

Still, cancer surgeries are less likely to be delayed than other types of operations.

In a memo about the cancellation of elective surgeries sent Tuesday to doctors in the Calgary area, Alberta Health Services wrote that, It is expected that the pandemic will continue for several months, and as such, stopping oncological surgery at this time does not seem appropriate.

Sandra Krueckl, vice-president of cancer control for the Canadian Cancer Society, said news of cancellations and postponements has only started reaching cancer patients.

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Its always concerning when we have a scenario that forces [cancer agencies] to reduce or change access that people have to care. These are really challenging times, Dr. Krueckl said. "It does become necessary to think proactively about how we can best serve everybody.

Keeping the coronavirus out of cancer centres is another top priority, according to Bob Bell, a former Ontario deputy health minister who was chief operating officer at Princess Margaret in 2003 when SARS forced physicians to evaluate patients with respiratory symptoms in a makeshift assessment area behind the hospital.

We had oncologists literally have discussions about patients on the sidewalk wearing ski jackets, stethoscopes hanging from their necks, he said. They made the right diagnoses. We did not get SARS at Princess Margaret Hospital."

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Ontario hospitals warn COVID-19 trumps cancer care in event of outbreak - The Globe and Mail

ELMWOOD PARK, N.J., March 17, 2020 /PRNewswire/ --BioReference Laboratories, Inc., an OPKO Health company (NASDAQ: OPK), today announced a collaboration with the New York City Health and Hospital Corporation (NYC Health + Hospitals) to provide coronavirus disease 2019 (COVID-19) testing. NYC Health + Hospitals is the largest public health care system in the nation serving more than a million New Yorkers annually in more than 70 patient care locations across the city's five boroughs.

"This expanded testing for H+H is critical to protecting the New Yorkers most at risk in this epidemic, especially our seniors and people with chronic health problems," said New York City Mayor Bill de Blasio. "We are in a race against time, and we are trying to rapidly make up the ground lost by the federal government in the initial weeks of this crisis. The new partnership between H+H and BioReference means increased testing and faster resultshelping save lives."

"In support of the public health system as they provide healthcare to vulnerable and at-risk populations, BioReference is committed to prioritizing hospital patients suspected of COVID-19 infections and aid front-line physicians and healthcare providers to quickly and efficiently diagnose patients," said Jon R. Cohen, M.D., Executive Chairman of BioReference Laboratories. "In addition to the drive-through facilities, this collaboration is yet another example of how the private sector can assist with government agencies to help combat this epidemic."

For more information aboutBioReference Laboratoriesand coronavirus testing options, please visitwww.bioreference.com/coronavirus.

Providers should refer to the most current CDC guidelines for further information on appropriate testing of patients, available here https://www.cdc.gov/coronavirus/2019-ncov/hcp/clinical-criteria.html.

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. For more information, visitwww.bioreference.com.

About OPKO HealthOPKO 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 test is used to assess a patient's 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. It's 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 Company's 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.

Cautionary Statement Regarding Forward-Looking StatementsThis 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 BioReference's plans to begin testing for COVID-19 and the timing of and availability of the test, 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

SOURCE BioReference Laboratories, Inc

http://www.bioreference.com

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OPKO Health's BioReference Laboratories and NYC Health + Hospitals Enter into Laboratory Collaboration to Provide Testing for Coronavirus Disease 2019...

In the late summer harvest of 2013, olive farmers in the Puglia region of southern Italy noticed that the leaves on several of their trees were turning brown and their shoots withering. The problem spread from one orchard to another, as more olive farmers found their trees were drying out and beginning to die.

Genetic testing confirmed them to be infected with Xyella fastidiosa, a bacteria originally found in America. Soon outbreaks appeared throughout the Mediterranean, even briefly as far north as Germany in 2016.

The bacteria is mainly spread by sap-sucking insects known as spittlebugs and sharpshooters. As the insects feed, the bacteria is able to infect the vessels that transport water and nutrients around the plant, known as the xylem. As the bacteria destroy the xylem, it slowly chokes the plant.

We are dealing with a very severe situation in southern Italy, said Dr Maria Saponari, based at the Institute for Sustainable Plant Protection in Bari, Italy. Europes researchers were caught off-guard by the epidemic, she explained. When the bacterium was discovered here, there wasnt any research centre in Europe working specifically on this pathogen. We were starting from zero.

The disease can infect a wide range of plants, including shrubs like the myrtle-leaf milkwort and rosemary, oak trees, and important crops like lavender. Food crops including cherry trees, plum trees and olive trees are among the species considered to be at high risk.

In particular, the outbreak has amplified problems in Italys strained olive oil sector. In 2018, the country reported a 57% drop in its olive harvest compared to 2017 a 25-year low. Researchers blamed a frosty spring followed by a summer drought, which weakened the olive trees and left them even more susceptible to infection.

The intense summer weather in southern Italy may also have made it easier for the disease to spread among olive trees as insects carrying the bacteria sought out food in the dry conditions. Here in summer, olives are the only green plants that we see, said Dr Saponari. Olive canopies, for them, (are) like a refuge to survive.

While the disease has been found in a number of EU countries, it appears the strains that have been imported in Corsica or in Spain are much less aggressive than the strain spreading in Puglia, added Dr Saponari.

In response, Dr Saponari is leading one of several Europe-wide projects seeking ways to curb this new threat to Europes olive crops, and monitor its spread. Her XF-actors project is examining olive trees genetics to see if some of the plants have natural resistance to Xyella fastidiosa that can then be used to breed crops that are more resilient against the disease.

We are dealing with a very severe situation in southern Italy.

Dr Maria Saponari, Institute for Sustainable Plant Protection, Italy

Border plants

Researchers on the project are also conducting field experiments to look at natural strategies to combat the disease, such as using kaolin clay as an insect repellent. Others are experimenting with border plants that can be grown around olive groves and other important crops to draw the bacteria-carrying insects away from the crops, and sentinel plants such as the myrtle-leaf milkwort which show symptoms of bacterial infection sooner, allowing action to be taken quickly to contain an infection.

It is also hoped it may be possible to contain the disease by chopping down infected plants, using more insecticide, or planting crops that are less susceptible to the bacterial strain.

The project teams priority lies in assisting the early detection and containment of the disease. Field inspections and new imaging technology developed by the XF-actors project can already predict how the bacteria may spread, and how to contain it. For example, a combination of thermal images, fieldwork, and spectroscopy can now detect infection in plants and trees before any symptoms appear.

All this information can then be put together to give the authorities a better idea of in which areas the disease is more likely to spread, and so where to send their inspectors next.

To date, monitoring and predicting outbreaks has proven difficult. Even tracking the disease-carrying insect vectors involves hours of sweeping trees and shrubs with entomological nets, and scientists still have to unravel exactly how the bacteria passes from the insects to the plants.

(Nets are) the best way to catch them, said Professor Alberto Fereres, an entomologist based at Spains Institute of Agricultural Sciences in Madrid. They are not very much attracted to sticky-colour traps. They communicate by sound they dont use colours as visual cues to find their host plants.

Prof. Fereres works on the XF-actors project while also leading another project aimed at tackling pest-spread pathogens in Europe, called POnTE. Prof. Fereres and his team are hoping to understand how insects transmit bacterial diseases like Xyella fastidiosa.

Their research is providing some early clues for strategies to stem the transmission of the disease. One involves introducing other non-harmful bacteria into the insects that make it harder for Xyella fastidiosa to spread.

These can do two things they can try to suppress the replication of the (Xyella) bacteria, (and) they can also compete with the bacteria in the vector for binding sites, explained Prof. Fereres.

(This) binding site is the precise place where the virus or bacteria binds inside the insects mouthparts, said Prof. Fereres.

His team is also experimenting with antimicrobial peptides short bits of protein and chemicals that can interfere with the bacterias ability to remain inside insects bodies.

The project is trying to prove which insects can pick up the bacteria from a plant and which are able to successfully transfer it to other plants as they feed.

The team are conducting laboratory experiments that place infected insects on plants in controlled environments so they can pinpoint what exactly needs to happen for insects to transmit the bacteria to other plants do they need to bite into the xylem specifically or just into other parts of the plant, for example.

The bacteria could also affect each plant species differently.

We dont know the genetic determinants which lead to the infection of some plant species and not other ones that are genetically close, says Dr Anne Sicard of the Institut National de la Recherche Agronomique (INRAE) in Montpellier, France.

Dr Sicard leads the XYL-EID project, a joint effort between INRAE, the University of California Berkeley, US, and Italys National Research Council, which is analysing the bacterias DNA to find out why such differences occur.

Outbreak origins

The project is searching for genes involved in helping the bacteria adapt to new environments, and in particular what happened in the outbreak in Puglia. They have analysed 74 bacteria samples collected from infected olive trees from across the affected area by sequencing each of their genomes.

This work is already offering some promising insights into the origin of the outbreak. All samples are genetically very similar to one another, confirming that the outbreak in Puglia is the result of the introduction and subsequent establishment of a single strain of Xyella fastidiosa. They also had a genetic similarity to a strain of the bacteria found in coffee plants in Costa Rica.

But while this research may ultimately provide new ways of fighting the disease, it is unlikely to eradicate it, added Prof. Fereres.

We will have to learn how to live with Xyella, but we will have to also develop ways to contain the disease as much as possible and to avoid situations as in the south of Italy.

The research in this article was funded by the EU. If you liked this article, please consider sharing it on social media.

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The fight to save Europe's olive trees from disease - Horizon magazine

Posted: Mar 17, 2020 / 04:16 AM CDT / Updated: Mar 13, 2020 / 04:18 PM CDT

Colorectal Cancer Information & Fact Sheet | Colon Cancer Prevention

Colorectal cancer, or cancer of the colon or rectum, is the second leading cause of death from cancer in the United States. Protect yourself from colorectal cancer by learning more about the disease, its symptoms, risk factors and the screenings that could save your life.

Symptoms

Rectal bleeding with bright red blood

Blood in stool, dark stool

Constipation, diarrhea or narrowing of the stool that lasts more than a few days

Sudden weight loss

Fatigue

Abdominal pain

Frequently feeling you need to have a bowel movement with no relief after having one

Risk Factors

Being over the age of 45

A family history of colorectal cancer

Drinking more than 3 alcoholic beverages a day

A previous history of colorectal cancer, high-risk adenomas, ovarian cancer or inflammatory bowel disease

An inherited genetic syndrome

Smoking

Being of African-American descent

Obesity

A sedentary lifestyle

Type 2 diabetes

Prevention and Screenings

Maintain a healthy lifestyle.

You can negate many of the controllable risk factors of colorectal cancer and other diseases by making healthy choices in your everyday life, such as exercising regularly, eating a healthy diet, limiting alcohol and not smoking.

Consider genetic testing.

If you have a family history of colorectal polyps or cancer, you may consider working with a genetic counselor to see if you carry an inherited gene for colorectal cancer. Typically, genetic testing is done for those who have had one or more first-degree family members with colorectal cancer, especially if the family member had the disease at a young age.

Get regular screenings.

Early detection is key to surviving colorectal cancer. When discovered in its early stages, the 5-year relative survival rate for the disease is approximately 90%. Screenings can also help prevent colorectal cancer from forming by helping physicians detect pre-cancerous polyps that need to be removed. People with an average risk of colorectal cancer should begin screenings at age 45. Once you turn 75 years of age, the decision to be screened should be based on your preferences, life expectancy, overall health and the results of prior screenings. Screening options include:

Stool-based tests

Highly sensitive fecal immunochemical test (FIT) conducted once a year

Highly sensitive guaiac-based fecal occult blood test (gFOBT) conducted once a year

Multi-targeted stool DNA test (MT-sDNA) conducted every 3 years

Visual exams

Colonoscopy conducted every 10 years

CT colonography (virtual colonoscopy) conducted every 5 years

Flexible sigmoidoscopy (FSIG) conducted every 5 years, along with air contrast barium enema

Baptist Health is committed to helping you minimize your risk of colorectal cancer, and provide exceptional treatment for the disease should you or one of your family members ever need it. If youd like to discuss your risk for colorectal cancer or schedule a screening, request an appointment with one of our expert physicians.

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What You Need to Know About Colorectal Cancer - KARK

Here is a 3D image of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), formerly ... [+] known as the 2019 novel coronavirus (2019-nCoV). (Image: Getty)

Dont you just love conspiracy theories? Especially when two groups of people have pretty much the same conspiracy theory about each other?

Some folks including politicians in the U.S. and China have both suggested that the COVID-19 coronavirus (SARS-CoV2) thats causing the pandemic may actually be a bioweapon that was manufactured in a lab. The only difference between their conspiracy theories is whos being accused of doing the manufacturing.

On the one corner are some people in the U.S. who are hinting or in some cases openly claiming that China put together this virus. For example, look at what Senator Tom Cotton (R-Arkansas) tweeted out back on January 30:

Then, Steve Mosher wrote on February 22 an opinion piece for the New York Post entitled, Dont buy Chinas story: The coronavirus may have leaked from a lab. Take a wild guess at what Mosher wrote about in his piece. By the way, Mosher is not a biomedical scientist, but instead is the president of the Population Research Institute and author of book called Bully of Asia: Why Chinas Dream Is the New Threat to World Order. So chances are that he didnt love China in the first place. But who knows, love works in mysterious ways.

So what evidence have Cotton, Mosher, and others provided to support these suggestions or claims? Incriminating pictures? Suspicious emails? Some awkward selfies? Any kind of scientific evidence?

Well, as Cotton picked out, there just happens to be a biosafety level-four (BSL-4) laboratory situated in Wuhan, China, the city where the whole outbreak started. Oh, and the lab had housed some types of coronaviruses among other pathogens. Yep, thats the evidence.

As you probably know, proximity alone should not imply guilt. That would be like claiming that you farted whenever theres a bad smell and you happen to be in the vicinity. Sure you may have intestines but that doesnt mean that every foul stench emanated from your guts.

Plus, its a lot easier to leak a pocket of air though your butt than a virus from a BSL-4 facility. BSL-4 facilities maintain the highest level of security among bio-laboratories since they do work on dangerous potentially life-threatening agents such as the Ebola, Lassa fever, and Marburg viruses. So its not as if the people inside these labs are playing throw and catch with the viruses and stuffing them into their pockets. To be designated as a BSL-4, the lab has to have the appropriate ventilation systems, reinforced walls, security systems, and construction to keep the wrong things inside and the right things outside.

Is it unusual then to have a BSL-4 facility in a city like Wuhan, China? Not really. There are already at least six BSL-4 facilities in the U.S. in Atlanta, GA, Frederick, MD, Galveston, TX, Hamilton, MT, and San Antonio, TX. According to the Federation of American Scientists website, seven others may be planned, under construction, or possibly finished in various cities such as Boston, MA, and Richmond, VA. These labs in the U.S. also study and house a range of dangerous pathogens. So again having a lab that studies bad pathogens does not mean that the lab released anything.

Not to be outdone, some in China have made similar suggestions, except that its the U.S. that built the virus and released it in China. Well, thats original. For example, take a look at these three tweets from Zhao Lijian, Spokesperson and Deputy Director General, Information Department for the Foreign Ministry of China:

Yes, the claim is that the U.S. released a virus in China so that the U.S. can then eventually suffer the consequences of the spreading virus just a couple months later. Makes a whole lotta sense, except that it doesnt. Where exactly is the real evidence that the U.S. military created SARS-CoV2?

The back-and-forth dialogue has continued with President Donald Trump then referring to SARS-CoV2 as the Chinese Virus as can be seen here:

When questioned why he was using this label rather than the real scientific name of the virus, Trump claimed that it was in response to the claim that the U.S. military had created the virus. The video accompanying the following tweet shows the exchange:

Back and forth. Back and forth. Back and forth.

So, it looks like conspiracy theorists on both sides havent really provided any compelling evidence that SARS-CoV2 was produced in a lab, whether in the U.S., in China, or in the Hogwarts School of Witchcraft and Wizardry.

In fact, there is not only a lack of evidence supporting these conspiracy theories, there has been growing strong scientific evidence against both of them. Scientists, you know the ones who are actually trying to find the truth and solve a problem rather than blame people, have been conducting genetic analyses to determine where the virus came from and how it ended up infecting humans. Although viruses arent exactly like people as they dont seem to have feelings or spread rumors, viruses do have genetic material like people, except their genetic material is not quite as complex as those of humans. Nevertheless, like humans, viruses still pass along such materials when they replicate and evolve. Its not as simple as The Jerry Springer Show using genetic testing to find out if a guy is someones father, but scientists can use more advanced genetic analysis to figure out the origins, the family tree of SARS-CoV2.

Indeed, strong clues had already emerged by February 26, 2020, when a Perspectives piece was published in the New England Journal of Medicine. In the piece, David M. Morens, M.D. and Peter Daszak, Ph.D. from the National Institute of Health (NIH) and Jeffery K. Taubenberger, M.D., Ph.D. wrote: Of course, scientists tell us that SARS-CoV-2 did not escape from a jar: RNA sequences closely resemble those of viruses that silently circulate in bats, and epidemiologic information implicates a bat-origin virus infecting unidentified animal species sold in Chinas live-animal markets.

This wasnt exactly a case of same bat channel, same bat time. But the first, more deadlier SARS virus seemed to cause the 2002-2003 outbreak after it had managed to jump from bats to humans via intermediate hosts such as masked palm civets. Yes, some masked beings may have inadvertently partnered with bats to bring the original SARS virus to humans. So it wouldnt be too surprising if something like that happened again for SARS-CoV2.

This illustration shows a close-up of the protein spikes on SARS-CoV2. (Image: Getty)

Even more evidence of a natural rather than human-made origin for SARS-CoV2 has emerged from a study described in a research letter just published in Nature Medicine. In the letter, a research team (Kristian G. Andersen from The Scripps Research Institute, Andrew Rambaut from the University of Edinburgh, W. Ian Lipkin from the Mailman School of Public Health of Columbia University, Edward C. Holmes from The University of Sydney and Robert F. Garry from Tulane University) described how they had analyzed the genetic sequences that code for the protein spikes on the surface of SARS-CoV2. The virus looks sort of like a medieval mace with multiple spikes sticking out from its spherical shape. These spikes arent just for show as the virus uses them to latch on to a cell that it wants to invade and then push its way into the cell. Very medieval stuff.

Apparently, portions of these spike proteins are so effective in targeting specific receptors on human cells that it is hard to imagine humans manufacturing them, not with known existing technology. The researchers then concluded that this feature and thus the new coronavirus could have in all likelihood only evolved over time naturally. You see humans can make useful stuff like ride-sharing apps but are still quite puny compared to nature when it comes to making stuff like viruses.

In fact, the research team found that the SARS-CoV-2 structure in general is quite different from what humans would have likely concocted. If a human had wanted to create a viral weapon, he or she would have started with the structure of a virus thats already known to cause illness in people. Naturally, if you want to make a weapon, you may want to start with something like a grenade launcher rather than a smoothie maker, not that the virus looks like either. Instead, the structure of SARS-CoV2 is quite similar to those of viruses known to infect bats and pangolins.

So all of this further supports the theory that the virus jumped from bats to humans via some intermediate animal host. This doesnt necessarily mean that the virus started causing trouble as soon as it started infecting humans. An alternative possibility is that it jumped a longer time ago and hung out among humans for a while before eventually evolving into its current troublesome selves. This latter possibility would be somewhat analogous to inviting someone to live with you because he or she initially seemed relatively harmless but then over time finding out that this flat mate has become a terror.

The findings from the genetic analyses are consistent with how SARS-CoV2 is currently behaving. The virus is not acting like a bio-weapon right now. The best bio-weapons kill at a much higher rate and can be readily transported and released. Imagine being told that a bio-weapon might take the lives of 1% to 3.4% of the people that it infects but you dont quite know specifically which ones. The difference between SARS-CoV2 and pathogens like the Ebola Virus or anthrax is like the difference between a bunch of sofas and a collection of missiles. Sure, the former can cause harm but not in a predictable and consistent manner. If someone actually decided to develop SARS-CoV2 as a bio-weapon, that person needs to find a new job.

So there you have it: scientific evidence trumping conspiracy theories. Will all of these scientific findings finally quash the virus-was-made-in-a-lab-and-it-is-your-fault rhetoric between the politicians and on social media? Probably not. Since when has science stopped such political rhetoric. Maybe, though, it will get more people to focus on the much more important matter at hand: trying to control this pandemic together.

See the article here:
Is COVID-19 Coronavirus A Bioweapon From A Lab? Here Is What Debunks This Theory - Forbes

Do I know Im at risk for developing dementia? You bet.

My father died of Alzheimers disease at age 72; my sister was felled by frontotemporal dementia at 58.

And thats not all: Two maternal uncles had Alzheimers and my maternal grandfather may have had vascular dementia (In his generation, it was called senility).

So what happens when I misplace a pair of eyeglasses or cant remember the name of a movie I saw a week ago?

Now comes my turn with dementia, I think. Then I talk myself down from that emotional cliff.

Am I alone in this? Hardly. Many people, like me, whove watched this cruel illness destroy a family member, dread the prospect that they too might become demented.

The lack of a cure or effective treatments only adds to the anxiety.

Just last week, news emerged that another study trying to stop Alzheimers in people at extremely high genetic risk had failed.

How do we cope as we face our fears and peer into our future?

Should I get tested?

Andrea Kline, whose mother, as well as her mothers sister and uncle, had Alzheimers disease, just turned 71 and lives in Boynton Beach, Florida in the United States.

Shes a retired registered nurse who teaches yoga to seniors at community centres and assisted-living facilities.

I worry about dementia incessantly. Every little thing that goes wrong, Im convinced its the beginning, she told me.

Because Kline has had multiple family members with Alzheimers, shes more likely to have a genetic vulnerability than someone with a single occurrence in their family.

But that doesnt mean this condition lies in her future. A risk is just that: Its not a guarantee.

The age of onset is also important. People with close relatives struck by dementia early before age 65 are more likely to be susceptible genetically.

Kline was the primary caregiver for her mother, Charlotte Kline, who received an Alzheimers diagnosis in 1999 and passed away in 2007 at age 80.

I try to eat very healthy. I exercise. I have an advance directive and Ive discussed what I want (in the way of care) with my son, she said.

Lately, Ive been thinking I should probably get a test for APOE4 (a gene variant that can raise the risk of developing Alzheimers), although Im not really sure if it would help, she added.

Maybe it would add some intensity to my planning for the future.

I spoke to a half-dozen experts for this article. None was in favour of genetic testing, except in unusual circumstances.

Having the APOE4 allele (gene variant) does not mean youll get Alzheimers disease. Plenty of people with Alzheimers dont have the allele, said Dr Mark Mapstone, a professor of neurology at the University of California, Irvine.

And conversely, plenty of people with the allele never develop Alzheimers.

Dr Tamar Gefen, an assistant professor of psychiatry and behavioural sciences at Northwestern Universitys Feinberg School of Medicine, strongly suggests having an in-depth discussion with a genetic counsellor if youre considering a test.

Before you say I have to know, really understand what youre dealing with, how your life might be affected and what these tests can and cannot tell you, she advised.

Karen Larsen, 55, is a social worker in the Boston area.

Her father, George Larsen, was diagnosed with vascular dementia and Alzheimers at age 84, and died within a year in 2014.

Larsen is firm: She doesnt want to investigate her risk of having memory or thinking problems.

Ive already planned for the future. I have a healthcare proxy and a living will and long-term care insurance.

Ive assigned powers of attorney and Ive saved my money, she said.

Eating a healthy diet, getting exercise, remaining socially engaged I already do all that, and I plan to as long as I can.

What would I do if I learned some negative from a test sit around and worry? she asked.

Types of tests

Currently, the gold standard in cognitive testing consists of a comprehensive neuropsychological examination.

Among the domains examined over three to four hours are memory, attention, language, intellectual functioning, problem-solving, visual-spatial orientation and perception.

Brain scans are another diagnostic tool.

CT (computed tomography) and MRI (magnetic resonance imaging) scans can show whether parts of the brain have structural abnormalities or arent functioning optimally. PET (positron emission tomography) scans can demonstrate the buildup of amyloid proteins a marker of Alzheimers.

Also, spinal taps can show whether amyloid and tau proteins are present in cerebrospinal fluid.

A note of caution: While amyloid and tau proteins in the brain are a signature characteristic of Alzheimers, not all people with these proteins develop cognitive impairment.

Several experts recommend that people concerned about their Alzheimers risk get a baseline set of neuropsychological tests, followed by repeat tests if and when they start experiencing worrisome symptoms.

When it comes to thinking and memory, everyone is different, said Dr Frederick Schmitt, a neurology professor at the University of Kentucky.

Having baseline results is very helpful and allows us to more carefully measure whether, in fact, significant changes have occurred over time, he said.

Nora Super, senior director of the Milken Institute Center for the Future of Aging, watched her father, Bill Super, and all three of his siblings succumb to Alzheimers disease over the course of several years falling, she said, like a row of dominoes.

One of her sisters was tested for the APOE4 genetic variant; results were negative.

This is no guarantee of a dementia-free future, however, since hundreds of genes are implicated in Alzheimers, Lewy body dementia, frontotemporal dementia and vascular dementia.

Rather than get genetic or neuropsychological tests, Super has focused on learning as much as she can about how to protect her brain.

At the top of the list: managing her depression, as well as stress. Both have been linked to dementia.

Also, Super exercises routinely and eats a MIND-style diet, rich in vegetables, berries, whole grains, nuts, fish and beans.

She is learning French (a form of cognitive stimulation), meditates regularly, and is socially and intellectually active.

According to a growing body of research, physical inactivity, hearing loss, depression, obesity, hypertension, smoking, social isolation, diabetes and low education levels raise the risk of dementia.

All of these factors are modifiable.

What if Super started having memory problems?

I fear I would get really depressed, she admitted.

Alzheimers is such a horrible disease: To see what people you love go through, especially in the early stages, when theyre aware of whats happening, but cant do anything about it, is excruciating.

Im not sure I want to go through that.

Assist Prof Gefen said she tells patients that if (cognitive testing) is something thats going to stress you out, then dont do it.

Making preparations

Nigel Smith, 49, had a change of heart after caring for his mother, Nancy Smith, 81, whos in hospice care in the Boston area with Alzheimers.

When he brought his mother in for a neuropsychological exam in early 2017 and she received a diagnosis of moderate Alzheimers, she was furious.

At that point, Nancy was still living in the familys large home in Brookline, Massachusetts, which she refused to leave.

Eventually, after his mother ended up in the hospital, Nigel was given legal authority over her affairs and he moved her to a memory care unit.

Now, shes deteriorated to the point where she has about 5% of her previous verbal skills, he said. She smiles, but she doesnt recognise me.

Does he want to know if something like this might lie in his future?

A couple of years ago, Nigel said he was too afraid of Alzheimers to contemplate this question.

Now hes determined to know as much as possible, not so much because Im curious, but so I can help prepare myself and my family.

I see the burden of what Im doing for my mother and I want to do everything I can to ease that burden for them.

Kim Hall, 54, of Plymouth, Minnesota, feels a similar need for a plan.

Her mother, Kathleen Peterson, 89, a registered nurse for over 50 years, was diagnosed with vascular dementia five years ago.

Today, she resides in assisted living and doesnt recognise most of her large family, including dozens of nieces and nephews who grew up with Hall.

Hall knows her mother had medical issues that may have harmed her brain: a traumatic brain injury as a young adult, uncontrolled high blood pressure for many years, several operations with general anaesthesia and an addiction to prescription painkillers.

I dont share these and that may work in my favour, she said.

Still, Hall is concerned.

I guess I want to know if Im at risk for dementia and if there is anything I can do to slow it down, she said.

I dont want what happened to my mother to happen to me.

Probably, she speculated, shell arrange to take a neuropsychological exam at some point.

Several years ago, when I was grieving my sisters death from frontotemporal dementia, my doctor suggested that a baseline exam of this sort might be a good idea.

I knew then that I wouldnt take him up on the offer.

If and when my time with dementia comes, Ill have to deal with it.

Until then, Id rather not know. By Judith Graham/Kaiser Health News/Tribune News service

Kaiser Health News is a US national health policy news service. It is an editorially-independent programme of the Henry J. Kaiser Family Foundation.

Read more from the original source:
Dealing with the fear of developing dementia - The Star Online

The clinic helps children at risk of developing heart disease in the future due to high cholesterol.

They can now attend a ground-breaking clinic run by the familial hypercholesterolemia (FH) service at York Teaching Hospital NHS Foundation Trust.

FH is an inherited condition which can lead to extremely high cholesterol levels and is passed down through families in the genes.

The FH service, led by Dr Chandrajay, Consultant in Chemical Pathology and Metabolic Medicine, and Claire Tuson, Familial Hypercholesterolaemia Specialist Nurse, has recently extended their service to include children and adolescents.

Claire explained: Research has shown that children with FH start to develop a build-up of fatty plaque in their arteries before the age of 10. Once diagnosed, FH is easy to treat so it makes sense to work with families as soon as possible.

Last year, with the support of Consultant Paediatrician Dr Dominic Smith, we extended gene testing to all children aged 10 years old and over, who have a parent affected with FH. Testing children for FH could prevent a potentially fatal heart attack or stroke.

The first six children from York and Scarborough that were identified with FH have recently attended our new Yorkshire and Humber joint paediatric clinic for children and their families, which launched at the end of January.

FH is estimated to affect 1 in 250 people in the UK, including over 56,000 children.

It is an inherited disorder of cholesterol and lipid metabolism, caused by an alteration in a single gene where people have higher levels of bad cholesterol levels from birth. If left undetected and untreated FH can lead to the early development of heart and circulatory problems.

Kiera Pickering, aged 12, and her brother Connor, aged 11, from Scarborough, were two of the first children to attend the clinic.

Claire added: Its a real breakthrough to be able to identify and treat children with FH so early. Alongside dietary and lifestyle advice to maintain a healthy body weight, children can be considered for statin therapy from as young as 10 years old.

"Statin treatment can not only prevent, but potentially reverse, the build-up of cholesterol and allow children and young people to live a perfectly healthy life.

Despite the availability of genetic testing, more than 85 percent of people with FH in the UK are undiagnosed.

The British Heart Foundation estimates that currently only around 600 children in the UK have been diagnosed with FH, meaning that thousands more are not on treatment and remain unaware of their future risk of heart disease.

For more information about the FH clinics contact claire.tuson@york.nhs.uk

See the original post:
Scarborough brother and sister, aged 11 and 12, with the genetic cholesterol condition FH are helped by new clinic - Whitby Gazette

What happened

Shares of Invitae (NYSE:NVTA) closed down 11.3% today as the broader market continued to fall. Investors are coming to grips that efforts to contain regional coronavirus outbreaks -- in fact, the novel coronavirus was just declared a global pandemic -- will have a significant negative impact on the global economy. And they're adjusting accordingly.

While there wasn't any company-specific news today, growth stocks tend to trade at healthy premiums. That makes them prime targets during market corrections -- and they tend to fall the hardest.

As of market close, shares of Invitae had settled to an 11.2% loss. The growth stock has now lost 1.7% since the beginning of 2020.

Image source: Getty Images.

The genetic testing company's growth-at-all-costs strategy has excited investors, who have generally been willing to forgo profits today in the hope of generating higher profits tomorrow. But global economic downturns have a funny way of shifting priorities around.

Invitae reported an operating loss of $244 million in 2019, which was double the total reported in 2018. While the business began 2020 with more than $391 million in cash to plow into expansion efforts and stomach continued losses, investors might be a little less willing to accept that much red ink during a recession, the odds of which have increased thanks to the coronavirus.

Growth stocks and volatility tend to go hand in hand in good times. The current market correction is simply amplifying those effects. The main takeaway for investors is that panicking or making emotional money moves isn't going to help the situation. Investors with a long-term mindset shouldn't necessarily expect the opportunity in genetic testing to be affected in the long run if or when a recession hits. Therefore, doing nothing is probably the best bet. If Invitae eases off its growth plans to preserve cash, then even better.

Read more from the original source:
Here's Why Invitae Stock Dropped Today - The Motley Fool

Jan Plumb has spent decades nurturing sphynx cats - the hairless felines - with an impressive 45 passing through her care over the years.

She currently owns six of her own who keep her busy alongside her role as secretary and welfare officer for The Sphynx Cat Club.

Jan, 75, raised her first cat after bringing it to these shores from the Netherlands in 1988 and then began breeding.

She now lives at home with her husband Les, 82, at their home in Christchurch, Dorset.

A fellow sphynx owner was forced to defend her wrinkly pet - as its face makes it look like it is constantly scowling.

Six-year-old Xherdan has a permanent angry-looking frown, leaving some people "a little bit scared".

But despite their poor reputation among some, Jan has loved the breed unconditionally for more than 30 years.

She said: "I'm very proud to have introduced them and of how they have become very popular.

"We started a society in 1991 [The Sphynx Cat Club] and now we have quite a big following.

"We got our first sphynx - Tulip - from the Netherlands in 1988.

"Our friends said they knew an owner after we had mentioned the cats. We had seen them in a magazine in 1984.

"We were then introduced and they said they had one for rehoming.

"We took it home and it was quarantined for six months before we could have it. We didn't have any problems from then on.

"[Sphynx cats] are proper lap cats. They are into everything, they can open doors and cupboards. They want to sleep in your bed. They are very friendly.

"There's nothing like a sphynx. Everyone that has got one has always ended up with more."

Expert Jan spent the next 32 years breeding and raising 45 cats.

She has become synonymous with the breed, founding the The Sphynx Cat Club and being heralded as an authority on all things related.

But she has slowed down in recent years and is now happy at home with just six: Meg, Mkai, Ruby, Willy, Perrrcy and Orion.

Jan said: "Sphynx cats can sell for anything from 700 to 1,200. That's because we have to do a lot of testing now.

"But it's no different to buying a Persian cat - you need genetic testing. That's why the price is like that.

"All of our cats now are neutered - I've been breeding for 32 years.

"As secretary and welfare officer I now deal with rehoming sphynx cats that come from abroad."

Although hairless cats have been around for generations, the sphynx is the first hairless breed that has been bred specifically for that trait.

The breeding programme began in 1966 in Ontario, Canada when a pet cat gave birth to a hairless male kitten.

However, most sphynx cats born today are descended from three hairless kittens found in Toronto in 1978.

It is thought there is now around 600 of the breed in Britain.

Originally posted here:
Woman who brought the first sphynx cat to Britain 30 years ago has defended them after they were labelled the ugliest in the world - Cambridgeshire...

TALLAHASSEE, Fla. As the end of the 2020 legislative session nears, the Florida House and Senate need to resolve key health-care policy and budget issues.

Here are seven big issues to watch:

NURSES: House Speaker Jose Oliva has made clear that his top priority is allowing advanced practice registered nurses to practice independently of physicians. The Senate is poised to offer a compromise that would allow the nurses to provide primary care and for certified nurse midwives to work autonomously. To qualify, advanced practice registered nurses would have to take at least 3,000 clinical practice hours in the five years before practicing autonomously. Its a scaled-back version of what the speaker wanted but more than what the Senate initially offered.

Why its in play Persistence. Oliva, R-Miami Lakes, never faltered in his push for independent practice. Its one of the few issues Oliva didnt get passed in 2019, and he is determined to get it done this year.

PHARMACISTS: In addition to giving more autonomy to nurses, Oliva has moved to broadly expand the scope of practice for pharmacists. Toward the end of the session, the House amended a proposal that initially would have allowed pharmacists to test and treat patients for the flu and strep throat and broadened it to allow pharmacists to treat people for chronic medical conditions. The Senate approved an amendment Tuesday and could send the bill back to the House as soon as Wednesday.

Why its in play This is one of a number of proposals that Oliva has championed during his tenure as House speaker, maintaining they will help lower health-care costs for the uninsured and keep people out of emergency rooms. Oliva has opposed expanding Medicaid coverage for uninsured people.

PEOPLE WITH DISABILITIES: Senate President Bill Galvano, R-Bradenton, was determined to increase funding for Medicaid services for people with developmental and intellectual disabilities. He has worked to increase funding for the Agency for Persons with Disabilities by $128 million in recurring general revenue in the upcoming fiscal year. The 2020-2021 budget also is expected to include $241 million to wipe out deficits the APD has accrued over the last two years. Galvano also would like to see passage of a bill (SB 82) that would make administrative changes in the iBudget program, which provides services that help people with disabilities remain in their homes and communities. Galvano hopes that will shore up the iBudget program and put to rest rumblings that it should be transitioned to managed care.

Why its in play Galvano told reporters in December that he has a real heart for this population.

GENETIC TESTING: The Senate inched closer Tuesday to passing a bill that would block life insurers and long-term care insurers from using genetic testing information when pricing policies. Before teeing up the bill (HB 1189) for a vote, the Senate approved an amendment that makes clear insurers could consider medical diagnoses included in medical records, even if the diagnoses were based on the results of genetic tests.

Why its in play The genetic testing issue has been a priority of incoming House Speaker Chris Sprowls, a Palm Harbor Republican who is a cancer survivor. Its unusual for incoming House speakers to file bills; they usually have other members to take on that task.

HOSPITAL FUNDING: The Senate has a plan to redirect money currently used to provide supplemental payments to hospitals that care for large number of low-income patients. The money would be targeted toward increasing base Medicaid rates for all hospitals. Hospital Corporation of America is leading the charge, arguing the change would allow Medicaid money to follow the patient and not the facility. The Safety Net Hospital Alliance of Florida has dubbed the supplemental payments the critical care fund, noting that the dollars are spent on 28 hospitals that provide the most charity care.

Why its in play This could be a take-home issue for Senate Appropriations Chairman Rob Bradley, a Fleming Island Republican who faces term limits this year. Bradley last year was successful at chipping away at the amount of supplemental hospital payments and wants more this year.

MEDICAID MANDATES: Florida administers its Medicaid program mostly through contracts with managed care plans after competitive bidding. The House wants to change Medicaid laws to require medical faculty plans and essential hospital providers to contract with all managed care plans or lose hundreds of millions of dollars in Medicaid funding.

Why its in play The issue stems from a contract dispute between Centene Health Plan, which operates in the Medicaid program as Sunshine Health Plan, and UF Shands Hospital in Gainesville, UF Health Jacksonville Hospital and physicians in the health systems network. The contract dispute has been settled, but the House speakers office doesnt want a repeat.

MEDICAID MANAGED CARE ENROLLMENT: The House also wants changes about automatic assignment of Medicaid beneficiaries to managed care plans. Such automatic assignment happens when beneficiaries dont choose plans. Potential changes include requiring the Agency for Health Care Administration secretary to certify that the states auto-assignment policy wont prevent managed-care plans from reaching enrollment levels necessary for sustainable operations.

Why its in play The changes would help Lighthouse Health Plan in the Panhandle, Vivida Health in Southwest Florida and Miami Childrens Health Plan in Southeast Florida, which are provider-sponsored networks that signed five-year contracts with the state in 2018. AHCAs current policy, the provider-sponsored networks argue, impedes their expansion in the market and benefits legacy managed-care plans.

View original post here:
7 big health care issues to watch as end of legislative session nears - WJXT News4JAX

A container ship arrives at Yusen Terminals at the Port of Los Angeles in Los Angeles, Calif., January 30, 2019. (Mike Blake/Reuters)

Over the past two weeks, America has faced the onset of a pandemic, an oil-price war, and a stock-market crash. In the face of these three crises, calls for economic stimulus are understandable, even expected. Yet the nature of the crises means that traditional fiscal stimulus measures could be counterproductive.

While there are some things policymakers could do, the most important thing is to avoid flash policy hasty reactions that create the illusion of doing something. Instead, they should work to reform or repeal policies that may have made the crises worse, and implement ones to make us more resilient in the future.

Traditional economic stimulus is inappropriate for a simple reason. It attempts to encourage more economic transactions between people. Increased economic activity is not necessarily desirable in the presence of a contagious pandemic, insofar as it encourages personal interactions.

Therefore, we should only rush to change policies on the basis of stimulus if they prevent effective response to the crisis, reduce resilience to changed economic behavior, or make the effects of the crisis worse than they would otherwise be.

An example of the last category is tariffs affecting supply chains. The administrations tariffs are aimed at changing how American businesses source materials and labor. If the tariffs are effective, they will put stress on supply chains as businesses shift their activities in response. And now, these supply chains are also under threat from the effects of the virus in supplier countries.

A temporary lifting of the tariffs will reduce the effects of that second stress and help keep many firms afloat. This would be preferable to announcing exemptions for firms under severe strain, a process that has proven difficult, bureaucratic, and prone to political influence.

Some policies have reduced effective responses. These include FDA regulations that prevent genetic testing firms from offering medical insights into individuals genetic traits, which have delayed the development and deployment of tests for COVID-19. That may have contributed to early spread of the pandemic. The FDA has lifted many of the restrictions, but any vaccine or cure still faces tremendous regulatory hurdles before it can be deployed.

Even accounting rules are a problem. For instance, SEC rules discourage the stockpiling of medical devices such as respirators, which are likely to be needed in large numbers and quickly exactly what stockpiles are meant for. Mark-to-market rules that helped exacerbate the last financial crisis are still in place, and could pose a major problem as assets turn illiquid with the market downturn.

Then there are policies that discourage resilience. For instance, delivery services are likely to be needed more than ever in the coming weeks. Yet many states are trying to put delivery services like GrubHub out of business by attacking their use of independent contractors.

Similarly, many states refuse to recognize out-of-state medical proficiency certifications. When doctors and nurses are desperately needed, these employment restrictions will cost lives. Fortunately, some states are leading the way to change this policy, such as Massachusetts and Florida.

Yet while there are things we can do, the most important may be to learn lessons for the next time this happens. Drone delivery is currently neither technologically feasible nor permitted by regulations. In a future pandemic, it could prove vital. So easing up on regulations that could delay experimentation and deployment could prove beneficial. Similar issues present for autonomous vehicles. There are examples like this across the board.

Moreover, we should take a good hard look at the institutions designed to tackle these challenges. The Centers for Disease Control and Prevention has spent less than 35 percent of its budget on fighting anything that can described as an infectious disease. Instead, it has focused on lecturing people about lifestyle. Theres a reason few listened when the health authorities warned against buying surgical masks. Narrowing the focus of the CDC back to infectious-disease control could help.

People want effective government during crises like these. That does not mean large government. If anything, governments sprawling nature has made it less responsive and effective in facing these genuine crises.

Fixing those problems isnt a question of doing something, spending more money, or having the right people in charge. It will involve a hard look at what government does and should and should not do. A resilient society requires a lean and flexible government. Flash policy wont achieve that.

The rest is here:
Pandemics, Stimulus, and the Limitations of Flash Policy - National Review

March 13, 2020 -Once people are aware of the issues surrounding genomic data sharing, collection, and security, individuals are more concerned with how their information will be used and expect to receive compensation for providing it, according to a survey published in PLOS One.

As the potential for personalized therapies continues to grow and genetic testing becomes more widely available, genomics entities have to find ways to advance the field while still protecting peoples genetic data.

The use of human genomic data collections is expanding, fueled by declining technological costs and enthusiasm for the promise of precision medicine, researchers said.

Accordingly, various organizations responsible for managing enormous genomic biobanks are developing and refining their governance systemsi.e., the organizational structures and policies that shape data collection, data integrity, data end uses, transparency, stakeholder input processes, and data securityseeking to balance the benefits of broad data use with the need to mitigate risk and meet societal responsibilities.

It's essential to measure the publics expectations surrounding the collection and use of genomic data, the research team stated. Prior research in this area has focused on the context of research biobanks owned by academic institutions, the group said, and has highlighted the idea that individuals providing their data are acting as altruistic donors.

READ MORE: Data Sharing Standards Needed to Address Patients SDOH

Findings in this context suggest that most participants, within the sole context of non-profit research biobanks, are generally willing to donate their data, are comfortable with indefinite use of their data, and are reassured by moderate privacy protections, the team said.

Yet the context of previous research presents an incomplete profile of public expectations for genetic database governance. We note that governance expectations for genetic databases in the future will be informed by two developing social phenomena: growing awareness of both the commercial value of genomic data and the emerging privacy risks for individuals providing data.

Researchers set out to assess individuals willingness to contribute genomic data to both nonprofit and for-profit organizations, as well as respondents views on genomic governance policies. The team provided 2,020 survey participants with a three-minute video created from mainstream coverage of genomic databases.

The group then asked participants questions about how governance policies or the ways genomic data is used, secured, and regulated would impact respondents willingness to provide data and the compensation they expect to receive.

The results showed that just 11.7 percent of respondents were willing to provide their data as an altruistic donation, while 50.6 percent said they would be willing to provide it if compensated with a payment of some amount. Nearly 38 percent said they were unwilling to provide it even if payment was available.

READ MORE: Can Healthcare Overcome Its Past Pitfalls to Leverage Genomic Data?

The researchers noted that these results contrast with previous surveys that focused on donating genomic data to academic research biobanks, which consistently report rates of willingness above 50 percent.

When people were more informed, they were a lot more interested in requiring greater security for their data, and they were a little bit more hesitant to give it up, said Ifeoma Ajunwa, assistant professor of labor relations, law and history at Cornell University and co-author of the study.

The team also evaluated the dollar amounts that people were seeking in exchange for their data. The median reported value among individuals was $130, which mirrors the amount paid per genome in a recent commercial transaction summarized in the video shown to participants.

This finding suggests that the pre-survey video influenced perceptions and responses, reflecting what could happen as individuals encounter real-life information alerting them to the value of genetic data.

In addition to compensation, the survey asked participants how 12 specific policies would impact their willingness to provide genomic data. The three policies that made them most willing to provide it were the ability to request their data to be deleted; assurance that their data wouldnt be sold or shared; and requiring specific permissions to use the data.

READ MORE: FDA Recognizes Genomic Database to Advance Precision Medicine

The three policies that decreased willingness the most were selling database access to pharmaceutical firms; providing data to the federal government; and retaining the data indefinitely without a specified date for destruction.

These results demonstrate the importance individuals place on control when it comes to data sharing.

A common denominator across these governance policy findings is a preference for restrictions on sharing or reuse, unless permission is specifically granted by the individual, researchers said.

These preferences appear to pose a challenge for the goals and business models of many database-owning organizations, which often envision that their databases will serve multiple, not-necessarily-specified scientific and commercial purposes, through access arrangements with multiple outside partners. This tension appears to hold equally for commercial as well as public organizations.

The group concluded that based on these findings, a one-size-fits-all approach wont meet public expectations for genomic data governance. Future research will need to continually evaluate evolving attitudes about genomic databases.

People need to know the full worth of their genetic data in order to make an informed consent, Ajunwa said. How much is the data worth, what kinds of safeguarding are necessary, is it OK to have something in digital form and therefore more vulnerable? There are all of these outstanding questions to be answered.

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More Than 50% of People Expect Compensation for Genomic Data Sharing - HealthITAnalytics.com

The clinic helps children at risk of developing heart disease in the future due to high cholesterol.

They can now attend a ground-breaking clinic run by the familial hypercholesterolemia (FH) service at York Teaching Hospital NHS Foundation Trust.

FH is an inherited condition which can lead to extremely high cholesterol levels and is passed down through families in the genes.

The FH service, led by Dr Chandrajay, Consultant in Chemical Pathology and Metabolic Medicine, and Claire Tuson, Familial Hypercholesterolaemia Specialist Nurse, has recently extended their service to include children and adolescents.

Claire explained: Research has shown that children with FH start to develop a build-up of fatty plaque in their arteries before the age of 10. Once diagnosed, FH is easy to treat so it makes sense to work with families as soon as possible.

Last year, with the support of Consultant Paediatrician Dr Dominic Smith, we extended gene testing to all children aged 10 years old and over, who have a parent affected with FH. Testing children for FH could prevent a potentially fatal heart attack or stroke.

The first six children from York and Scarborough that were identified with FH have recently attended our new Yorkshire and Humber joint paediatric clinic for children and their families, which launched at the end of January.

FH is estimated to affect 1 in 250 people in the UK, including over 56,000 children.

It is an inherited disorder of cholesterol and lipid metabolism, caused by an alteration in a single gene where people have higher levels of bad cholesterol levels from birth. If left undetected and untreated FH can lead to the early development of heart and circulatory problems.

Kiera Pickering, aged 12, and her brother Connor, aged 11, from Scarborough, were two of the first children to attend the clinic.

Claire added: Its a real breakthrough to be able to identify and treat children with FH so early. Alongside dietary and lifestyle advice to maintain a healthy body weight, children can be considered for statin therapy from as young as 10 years old.

"Statin treatment can not only prevent, but potentially reverse, the build-up of cholesterol and allow children and young people to live a perfectly healthy life.

Despite the availability of genetic testing, more than 85 percent of people with FH in the UK are undiagnosed.

The British Heart Foundation estimates that currently only around 600 children in the UK have been diagnosed with FH, meaning that thousands more are not on treatment and remain unaware of their future risk of heart disease.

For more information about the FH clinics contact claire.tuson@york.nhs.uk

Original post:
Scarborough brother and sister, aged 11 and 12, with the genetic cholesterol condition FH are helped by new clinic - The Scarborough News

The latest research report on the Direct-Access Genetic Testing Market published by Verified Market Research provides a profound awareness of the various market dynamics such as Trends, drivers, challenges and opportunities. The report explains in more detail the micro and macroeconomic elements that are expected to influence the growth of the Direct-Access Genetic Testing Market over the forecast period (2020-2026).

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Direct-Access Genetic Testing Market 2020 By Top Key Players/Manufacturers, Type and Application, Regions, Industry Analysis, Growth, Size, Trends and...

Physicians primarily consider a womans age at diagnosis and her familys cancer history when determining whether to recommend genetic testing. A woman diagnosed with breast cancer before age 50, for example, or a healthy woman with several close family members who have had breast or ovarian cancer, is more likely to be referred for genetic testing than a postmenopausal woman with breast cancer and no other risk factors.

For the study, Kurian and Stefanick and their colleagues set out to compare the prevalence of cancer-associated mutations in 10 breast-cancer risk genes, including BRCA1 and BRCA2. They compared 2,195 women who were diagnosed with breast cancer at an average age of 73 with 2,322 women without breast cancer.

The data for the study came from more than 4,500 participants in the long-runningWomens Health Initiative. The initiative enrolled more than 160,000 women ages 50 to 79 throughout the United States between 1993 to 1998 to conduct the largest study of postmenopausal health in the country. Stefanick served as chair of the initiatives steering committee for most of the project.

The researchers found that about 3.5% of the women with breast cancer in their study had a cancer-associated mutation in at least one of the 10 genes, compared with about 1.3% of women without cancer. When they narrowed their focus to just the BRCA1 and BRCA2 genes in women diagnosed before age 65, they found that about 2.2% of women with breast cancers had cancer-associated mutations, versus about 1.1% of those without breast cancer.

Only about 31% of those women with cancer and 20% of those without cancer, both with BRCA1 or BRCA2 mutations, were likely to have been recommended for testing under the current guidelines of the National Comprehensive Cancer Network.

Now we know that the prevalence of cancer-associated BRCA1 and BRCA2 mutations in women diagnosed with breast cancer after menopause rivals that in women of Ashkenazi Jewish descent a population that is currently encouraged to discuss genetic testing with their doctors, Kurian said. We finally have a read on the likely benefit of testing this most common subgroup of breast cancer patients.

Researchers from Myriad Genetics Inc., the University of California-San Diego and the State University of New York contributed to the study.

The research was supported by Myriad Genetics, the Suzanne Pride Bryan Fund for Breast Cancer Research, the Jan Weimer Faculty Chair in Breast Oncology and the BRCA Foundation.

Read more here:
Older women with breast cancer may benefit from genetic testing - Stanford Medical Center Report

When it comes to fighting rare diseases, the biggest barrier to overcome is often the lack of knowledge around the condition. A free genetic test is hoping to combat this and speed up drug development in inherited retinal diseases.

The small patient populations in rare diseases and resulting lack of understanding about the conditions natural histories has many implications for researchers trying to develop orphan drugs.

Clinical trials become difficult to set up due to the limited experience in conducting studies for these diseases, including the lack of understanding of what endpoints will be most sensitive, says Daniel de Boer, chief executive officer of ProQR Therapeutics, which is developing RNA therapies to treat inherited retinal diseases (IRD).

Standard trial designs are not optimised to obtain adequate safety and efficacy data from small numbers of patients, and trials are frequently conducted on an international scale with various regulatory agency oversights.

Like in many rare diseases, there are some dire statistics in IRDs. There are as many as 300 inherited retinal diseases known today, affecting over two million people but only a fraction of these patients have access to a therapy.

IRDs also require precise and targeted treatments to deliver an accurate genetic diagnosis.

The programme is taking a crowdsourcing approach to gathering the data researches need when working on orphan drugs

From talking to retina specialists, we know that barriers to genetic testing remain a challenge for patients, says de Boer. For instance, at ProQR we are developing RNA therapies for specific mutations causing Lebers congenital amaurosis 10 (LCA10), Usher syndrome type 2 and autosomal dominant retinitis pigmentosa (adRP). However, there are hundreds of genetic mutations that can cause inherited retinal diseases.

Without knowing the exact mutations and the prevalence in which they occur, it can be difficult to design therapies and execute clinical trials for these rare and ultra-rare diseases.

In an effort to give researchers the best possible start when developing treatments for eye diseases, The Foundation Fighting Blindness has founded the My Retina Tracker programme, in partnership with Blueprint Genetics and InformedDNA.

The programme is a global, patient-driven registry for inherited retinal diseases (IRD). It offers free, open access genetic testing and genetic counseling for individuals living in the United States with a clinical diagnosis of IRD.

The genetic counseling consists of reviewing a patients medical and family history, interpretation of genetic variants, correlation with the disease, and medical management recommendations.

The programme also gives individuals the opportunity to contribute to focus groups, patient journey analyses, research studies, and the opportunity to be enrolled in relevant natural history studies and clinical trials.

My Retina Tracker also records subjective information from patients regarding how their disease affects their day to day activities. This recording option is available to doctors, allowing them to enter any additional information during appointments with patients.

In other words, the programme is taking a crowdsourcing approach to gathering the data researches need when working on drugs for IRDs.

Since its establishment in 2017 over 6,000 people with an IRD have participated, with the Foundation FIghting Blindness aiming to test over 20,000 patients within the next few years.

This has created a powerful genotype/phenotype database, says de Boer.

ProQR has recently become the first industry partner for the programme, giving it access to expert physicians and de-identified data from specific participating IRD patients.

This data has the potential to expedite the advancement of new treatments by identifying the mutations causing inherited rare diseases, de Boer explains.

The companys RNA therapies aim to edit RNA, the blueprint for proteins. Targeting RNA does not affect a persons DNA, the source of the genetic code, but instead reduces the risk of permanent side effects.

For inherited retinal diseases, RNA therapies can be administered through intravitreal injections, which is a far less invasive procedure than the retinal surgery required for gene therapies, de Boer says. RNA therapies do not need a vector to enter cells rather, intravitreal injection allows the drug to be distributed to the entire retina, which is where the therapy is needed.

The data can have additional benefits in clinical trial recruitment by identifying patients with these rare diseases.

Data like this is instrumental when recruiting participants for a trial. Treatments for inherited retinal diseases, like our RNA therapies, are specifically designed for a certain genetic mutation. Identifying the exact mutation that causes the disease encourages patients to participate in trials that target their mutation.

There are also benefits in diagnosis a confirmed genetic diagnosis may help patients and doctors better understand prognosis and help guide medical management.

With this information, physicians can determine the correct diagnosis and potential treatment for a patient, says de Boer. The data may match the patients mutation to an existing therapy or an ongoing clinical trial.

In terms of research and the development of therapeutics, it is crucial to increase our knowledge on the prevalence of the specific gene variants that cause an IRD.

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Genetic testing hopes to speed up drug development in rare eye diseases - - pharmaphorum

Shari Ungerleider is a firm believer that if a person is going to undergo genetic testing, they should also receive genetic counseling. She says the information gathered from testing is too complicated for a layman to break down, and if read incorrectly can result in a misdiagnosis.

Ungerleider is the project coordinator of Jewish Genetic Disease Consortium (JGDC) and her mission is to educate the medical community, Jewish community and Jewish clergy about genetic diseases.

Also working to get the word out are Nancy Lurie, chief operating officer of the Neuromuscular Disease Foundation (NDF), and Karen Arnovitz Grinzaid, executive director of JScreen. They teamed up with Ungerleider in Los Angeles in February to raise awareness about advancements in genetic testing and options for carriers of recessive diseases.

Theres no way that an OB-GYN or a pediatrician or any other doctor can keep up with genetic science, Ungerleider said. Our philosophy is, refer them to a genetic counselor. If you have a patient that has a problem with their heart, youre going to send them to a cardiologist. So every patient [that receives] genetic testing, [you should] send them to a genetic counselor.

According to the Los Angeles nonprofit GeneTestNow, which provides information on Jewish genetic diseases, a number of these diseases are commonly found in Jewish populations. In general, all ethnic groups have certain conditions that are passed down and if two carriers have the same condition, there is a 1 in 4 chance their child can be affected.

While Tay Sachs and Gaucher disease remain the most widely known recessive genetic diseases among Jews, Lurie said genetic testing awareness has been expanded to interfaith couples, non-Jews and Persian and Sephardic Jews because they can be carriers of various types of neuromuscular diseases. Thats why, she said, its important for everyone, not just Ashkenazi Jews, to get tested.

This generation is much more open to talking about genetic testing, Lurie said. They can learn and pass it on to the people they know best [in their community]. NDF is [educating] through the young adults. The opportunity to educate the clergy is something we really havent been able to do [until now].

Among their many visits around Los Angeles, the trio made presentations to clergy at Sinai Temple and at Wilshire Boulevard Temple.

Theres no way that an OB-GYN or a pediatrician or any other doctor can keep up with genetic science. Our philosophy is, refer them to a genetic counselor. Shari Ungerleider

Ungerleider is passionate about the cause because her son Evan died from Tay Sachs. Ungerleider was tested for Tay Sachs but got a false negative after her doctor misread her test results. Now she fights so that every couple planning for a family can gain access to their genetic information before pregnancy so they can know their options.

I would never knowingly put a child through what Evan [went through], Ungerleider said. The question I sometimes get from people is, Well, do you wish you never had Evan? and the answer is, No, I dont wish I didnt have him. Do I wish I was able to know and spare him with what he went through? Absolutely. I would have changed that in a second. Its a parents responsibility to protect them and take care of them, and that starts the moment after conception. So anything you can do to spare your childs pain if you know, my philosophy is do it. Genetic testing isnt telling you what to do, its providing you with options.

Grinzaid, who was a genetic counselor before she became JScreens executive director, told the Journal many couples are nervous about being screened.

Having to sit with a family and give them bad news, thats hard. I had to do that for many years, Grinzaid said. Sometimes I would sit down with a family and I would know that they could have had genetic testing and known about the risk ahead of time but didnt have access to the testing. If we are able to test people and give them a heads-up ahead of time, thats a gift.

JScreen tests for 226 diseases. Through saliva at home spit tests, Jewish and non-Jewish couples can get tested for $149, regardless of insurance. Then, couples can meet privately with a genetic counselor to hear their options.

We are all about prevention so they can plan ahead, Grinzaid said. We dont screen minors, but [you can get tested] whenever a couple decides to do this, as long as it is before pregnancy. If you are a high-risk couple, there are options. If you are already pregnant, there are options, but there are fewer options.

Grinzaid said that genetic advancements have grown immensely over the past eight years. However, she noted there is a misconception that if a couple is a carrier for the same disease, they have to break up because they cant have a healthy baby. Now, Grinzaid says, there are safe options that allow the couple to stay together and raise a family. Couples can choose to undergo in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD), they can use an egg or sperm from a screened noncarrier donor or they can choose to adopt children.

The main priority is to get tested early and not fear the results. Even if theyre completely healthy, everybody has a risk of being a carrier for genetic diseases. About 80% of people will be tested as a carrier because there are so many genes on the panel, so [dont] be nervous about being a carrier, Grinzaid said, noting the only problem is when both couples are a carrier for the same disease. One thing that is reassuring is only about 3% of couples in these programs are at risk. I like to reassure them that they are probably going to hear good news.

See more here:
Educating the Community About Jewish Genetic Diseases - Jewish Journal

CALGARY -- When Madden Ellis Garraway was just under two-years-old, he became very sick.

His skin was so dry it bled and he couldnt hold down food, causing his weight dropped to within ounces of his birth weight of seven pounds, six ounces.

Doctors struggled to figure out what was wrong.

We had a large list of things that we were thinking of, and our immunology team and my colleagues who are working with Madden were having trouble arriving at the right one," said Dr. Francois Bernier, head of the Department of Medical Genetics and a professor in the Department of Paediatrics at the University of Calgary's Cumming School of Medicine.

"In fact, we made some attempts to arrive at a diagnosis but we're still unsure. It took a while.

Doctors often struggle with diagnosing unusual health issues, especially those that may require genetic testing.

They often must rely on genome sequencing tests to determine the root cause of a disease and until now, large-scale genome sequencing tests were often sent to labs in the United States for analysis.

Bernier calls it "the diagnostic odyssey," a long, difficult, journey for families waiting while cliniciansfigure out what is causing the underlying health issues.

Madden Garraway in hospital at the age of two. (Photo courtesy the Garraway family)

Maddens family can attest to that.

It was months of waiting, wondering and worrying before Madden's blood was sent to a U.S. lab for genome analysis, where it was learned he suffered from a rare genetic condition called immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome.

IPEX is a rare genetic disorder that can be life threatening.

"If we could have learned about that instantly, or within the several weeks that we can do now, that will save a lot of time," said Maddens father, Patrick Garraway.

"We could have got on with his bone marrow transplant sooner."

Madden received a bone marrow transplant from his sister. Now five-years-old, the playful youngster has made a full recovery and no longer requires medication.

"There are so many families waiting for answers to serious medical conditions," said Bernier.

"Access to gene sequencing early in the medical journey can pinpoint the best treatment approaches and therapies to target the illness."

Madden Garraway today at the age of five. (Photo courtesy the Garraway family)

A new partnership struck between the University of Calgary, University of Alberta, and Alberta Precision Laboratorieswill help families and medical professionalsanswer to those diagnostic puzzles sooner.

The partnership is funded by Genome Canada, the Alberta Childrens Hospital Foundation, and other partners. Four other centres in Canada are also undertaking similar programs through Genome Canadas funding, one in B.C., two in Ontario and one in Quebec.

The rest is here:
Rapid genetic testing becomes available to Calgary medical community - CTV News

By Jason Arunn Murugesu

Jochen Tack / Alamy

As consumer genetic testing has risen in popularity, awareness of the value of genetic data has lagged behind. A survey of people in the US has found that 50 per cent would hand over their genetic data for $95 (70), on average.

Forrest Briscoe at Pennsylvania State University and his colleagues surveyed more than 2000 people about the use of genetic data, which can be stored in databases for police use, at direct-to-consumer genetic test firms, and for medical research.

I really felt like we needed updated information about how the public views these databases, says Briscoe. They are growing quickly, in number and size, but the information being used to inform design and governance is outdated.

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The participants, a representative sample of the US population, watched a 3-minute video detailing both the commercial value of genomic data and genetic privacy issues. This included a statement that consumer genetic testing firm 23andMe sells access to its databaseto pharmaceutical firms for $140 per individuals data.

The participants were then split into five groups and asked whether they would grant access to their genetic data either as a donation or in exchange for money to one of five types of organisation: a non-profit hospital, a pharmaceutical company, a tech firm, a university research lab and a US federal research agency.

While 38 per cent said they wouldnt share their data, 50 per cent said they would if they were paid, and 12 per cent said they would do it for free.

The type of organisation that would use their data didnt affect willingness to share. That was a surprise, says Briscoe. We think this makes the case for a common governance framework for DNA databases, whoever they are owned by.

Those who said they wanted to be paid, expected a median of $130, but said they would accept $95 if they also received a health and ancestry report based on their genetic data. People who said they would give their data away said they would pay an average of $75 for such a report.

These results demonstrate the growing interest in maintaining a degree of control over personal information, says Tim Caulfield at the University of Alberta, Canada. The public has been told for decades that this research is essential and valuable and potentially profitable. They may be thinking, Okay, I believe you. Pay me.

Journal reference: PLoS One, DOI: 10.1371/journal.pone.0229044

More on these topics:

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Half of people in the US would sell their genetic data for $95 - New Scientist News

The Direct-to-Consumer (DTC) Genetic Testing Market report coverage is comprised of various parameters such as the industry size, regional opportunities for market expansion, important participants in the industry, restraining factors as well as driving forces, segmental analysis, and details on competitive landscape.

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Report Growth Drivers Rising public awareness in North AmericaIncreasing income level in emerging economiesGrowing incidences of genetic disorders globallyIncreasing demand for service personalization in North America and Europe

The main aim of the study is to entail substantial data and updates pertaining to the market and also to educate the audience on the various growth opportunities prevailing in the industry, which may help augment the business space. A deep-dive summary of the Direct-to-Consumer (DTC) Genetic Testing Market in combination with an in-depth set of the market definitions and business sphere overview have been provided in the report.

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The abstract section is inclusive mainly of the information about the market dynamics. This is further encompassed of the driving factors augmenting the industry share, business constraints, trends characterizing the industry, in tandem with the numerous growth opportunities prevalent in the space.

Information about the pricing evaluation alongside the value chain analysis have been given in the study. Historic figures and estimates pertaining to the industry expansion spanning the projection period are also entailed in the study.

Top CompaniesandMe, Ancestry, Color, EasyDNA, Family Tree DNA, Full Genomes, Genesis HealthCare, Helix, Identigene, Karmagenes, Living DNA, MapMyGenome, MyHeritage, Pathway Genomics

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What are the key takeaways of this report?

A well-detailed evaluation of the pricing trends has been given in the report, pertaining to the product, application, as well as regional landscapes

A well-detailed analysis of the vendor matrix alongside the important companies that will help to better understand the competitive scenario in the global market

Important insights pertaining to the regulatory spectrum surrounding the industry, along with the investments by many shareholders in the global market

A significantly deep evaluation of the many parameters propelling the overall market growth in combination with their influence on the projection as well as dynamics of the global market

A detailed understanding of the numerous available growth opportunities in the global industry

An extensive evaluation of the various trends prevailing in the global business space

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Direct-to-Consumer (DTC) Genetic Testing Market: Overview and Share Forecasted t - GroundAlerts.com

As the end of the 2020 legislative session nears, the Florida House and Senate need to resolve key health-care policy and budget issues. Here are seven big issues to watch:

Why its in play Persistence. Oliva, R-Miami Lakes, never faltered in his push for independent practice. Its one of the few issues Oliva didnt get passed in 2019, and he is determined to get it done this year.

Why its in play This is one of a number of proposals that Oliva has championed during his tenure as House speaker, maintaining they will help lower health-care costs for the uninsured and keep people out of emergency rooms. Oliva has opposed expanding Medicaid coverage for uninsured people.

Why its in play Galvano told reporters in December that he has a real heart for this population.

Why its in play The genetic testing issue has been a priority of incoming House Speaker Chris Sprowls, a Palm Harbor Republican who is a cancer survivor. Its unusual for incoming House speakers to file bills; they usually have other members to take on that task.

Why its in play This could be a take-home issue for Senate Appropriations Chairman Rob Bradley, a Fleming Island Republican who faces term limits this year. Bradley last year was successful at chipping away at the amount of supplemental hospital payments and wants more this year.

Why its in play The changes would help Lighthouse Health Plan in the Panhandle, Vivida Health in Southwest Florida and Miami Childrens Health Plan in Southeast Florida, which are provider-sponsored networks that signed five-year contracts with the state in 2018. AHCAs current policy, the provider-sponsored networks argue, impedes their expansion in the market and benefits legacy managed-care plans.

Excerpt from:
Beyond coronavirus: The seven biggest healthcare issues to watch in Florida right now - Orlando Weekly