Contact Us

Use the form on the right to contact us.

You can edit the text in this area, and change where the contact form on the right submits to, by entering edit mode using the modes on the bottom right. 

14893 Northwest Purvis Drive
Portland, OR, 97229
United States

971-208-5909

Reliable source for medical, health and beauty products, medical review articles and business medicine services.

HEALTH CARE NEWS

US Congress extends CHIP, funds opioid crisis response following temporary shutdown

Publish date: February 9, 2018

By 

Gregory Twachtman 

Oncology Practice

 

 

 

 

 

 

 

 

 

Congress, despite a second shutdown in less than a month, was able to pass a number of financial extenders to fund key health care programs.

The bipartisan spending bill (H.R. 1892), passed in the early morning hours on Feb. 9 by a 71-28 vote in the Senate (16 Republicans and 12 Democrats voted against it, and Sen. John McCain [R-Ariz.] was not present) and a 240-186 vote in the House (67 Republicans and 119 Democrats voted against and 5 representatives did not vote). President Trump signed the bill later that morning.

 

The spending bill and continuing resolution to fund the government through March 23 includes $6 billion to fund treatment for opioid addiction and other mental health issues, $2 billion in additional funding for the National Institutes of Health, and 4 additional years of funding for the Children’s Health Insurance Program. The additional CHIP funding extends the program for a total of 10 years.

The funding bill also made a technical correction to the Merit-based Incentive Payment System (MIPS) track of the Medicare Quality Payment Program. It removes Part B drug reimbursement from the MIPS payment adjustment, so any positive or negative change to physician payments based on the MIPS score will only be applied to physician fee schedule payments.

The bill also repeals the Independent Payment Advisory Board, a panel created by the Affordable Care Act that would have the power to slash Medicare spending under certain budget circumstances. That board was never convened.

The funding legislation also accelerates closure of the Medicare Part D “donut hole,” the coverage gap in which beneficiaries must pay 100% of medication costs prior to entering catastrophic coverage.

Just over $7 billion was provided for community health centers and Medicare’s therapy caps were repealed.

While the funding bill was written in the Senate with bipartisan input and received bipartisan support, Sen. Rand Paul (R-Ky.) held up votes over objections to the more than $1 trillion it will add to the nation’s debt, as well as for the fact that there was no opportunity to introduce and vote on amendments, leading to an hours-long government shutdown.

There also were concerns about two issues that could have derailed the vote in the House. Democrats wanted to add language to address immigrants brought to this nation illegally as children, while some Republicans did not want to increase the federal debt. However, there were enough votes to pass the funding legislation.

gtwachtman@frontlinemedcom.com

New Methods Find Undiagnosed Genetic Diseases In Electronic Health Records

Drotumdi O

 New Methods Find Undiagnosed Genetic Diseases In Electronic Health Records     Article ID: 690981  Released: 12-Mar-2018 5:00 PM EDT  Source Newsroom:  Vanderbilt University Medical Center    Add to Favorites         more news from this source    contact patient services             Share                     Credit: Photo courtesy of Vanderbilt University Medical Center  Vanderbilt University Medical Center's Josh Denny           Credit: Photo courtesy of Vanderbilt University Medical Center  Vanderbilt University Medical Center's Josh Denny and Lisa Bastarache           Credit: Photo courtesy of Vanderbilt University Medical Center  Vanderbilt University Medical Center's Josh Denny and Lisa Bastarache           Credit: Photo courtesy of Vanderbilt University Medical Center  Vanderbilt University Medical Center's Lisa Bastarache           Credit: Photo courtesy of Vanderbilt University Medical Center  Vanderbilt University Medical Center's Josh Denny           Credit: Photo courtesy of Vanderbilt University Medical Center  Vanderbilt University Medical Center's Josh Denny and Lisa Bastarache   Prev  Next      MEDIA CONTACT   Available for logged-in reporters only   CITATIONS   Science ; LM010685, LM011939, LM007359, HG004603, HG006378, HG008672, HG008341, RR024975, TR000445, GM114128, GM115305, GM120523, HL133786  CHANNELS   All Journal News ,  Genetics ,  Healthcare ,  Grant Funded News   KEYWORDS   Genetics ,  Disease ,  Undiagnosed Diseases ,  Electronic Health Record         Newswise — Patients diagnosed with heart failure, stroke, infertility and kidney failure could actually be suffering from rare and undiagnosed genetic diseases.  And now researchers at Vanderbilt University Medical Center have found a way to search genetic data in electronic health records to identify these diseases in large populations so treatments can be tailored to the actual cause of the illness.  The implications for the findings reported today in the journal  Science  are broad and numerous — 14 percent of patients with genetic variants affecting the kidney had kidney transplants and 10 percent with another variant required liver transplants.  If their genetic cause had been diagnosed, those transplants might have been avoided.  “We started with a simple idea: look for a cluster of symptoms and diseases to find an undiagnosed underlying disease,” said Josh Denny, MD, MS, professor of Biomedical Informatics and Medicine and director of the Center for Precision Medicine.  “Then we got really excited when we saw how we could systematize it across thousands of genetic diseases to figure out the impact of millions of genetic variants,” he said.  The new method, developed by Denny, Lisa Bastarache, MS, and a team of collaborators, creates a phenotype risk score to find patterns of symptoms that may be caused by an underlying genetic variant — including some genetic variants whose effects were previously unknown.  The authors theorized that many patients currently diagnosed with issues such as heart failure, stroke, infertility or kidney failure might actually be suffering from a rare genetic disease. If that underlying disease could be identified, it may have a specific treatment preventing the symptoms from recurring or getting worse.  By merging traditional resources with newer data mining techniques, the authors assigned scores to 21,701 individuals based on how well their list of symptoms fit the clinical description of each of 1,204 different genetic diseases. The resulting phenotype risk score is high for individuals who are a close match and low for individuals who lack keys features of the disease.  “What the phenotype risk score shows us is that if you start with specific combinations of symptoms, the chances of finding a potentially causative genetic variant are pretty high. This is a really important step to using clinical genotyping to assess patient risk and inform more precise prevention and treatment of common conditions,” said co-author Dan Roden, MD, Senior Vice President for Personalized Medicine.  The researchers found 18 associations between genetic variants and high phenotype risk scores. Some are well known to geneticists, such as two variants that cause cystic fibrosis, but most of the associations were for variants that have not previously been described.  Individuals for this discovery study were drawn from BioVU, one of the largest repositories of its kind linking DNA samples to de-identified electronic health records. The team then replicated their results at a second biobank at the Marshfield Clinic and confirmed them through tests in labs at VUMC and the University of Oklahoma.  The research also provides an important insight into the nature of disease inheritance. Until now, physicians have assumed that genetic diseases called “recessive” require two mutations (one from each parent) to become symptomatic. However, the researchers found that only one variant was enough for some diseases to impact a patient’s health.  “In view of our findings, familiar medical categories such as ‘complex’ versus ‘genetic’, or ‘dominant’ versus ‘recessive’ begin to appear more like continuums,” said Bastarache, lead data scientist with VUMC’s Center for Precision Medicine.   As genetic testing becomes more common, there is a growing need to understand the impact of genetic variants. Only a fraction of the rare genetic variants found in human beings are well understood. This study shows that looking at outcomes in electronic health records can be helpful in deciding if a variant might be disease-associated.  “Phenotype risk scoring can easily be applied in any electronic medical record system that is linked to DNA,” Bastarache said. “Our work looked at only a small sample of the human genome, about 6,000 variants. The opportunity for additional discoveries using this method is huge.”  The study unites efforts of 27 authors: Lisa Bastarache, Jake Hughey, Joy Marlo, Sara Van Driest, Tracy McGregor, Jonathan Mosley, Quinn Wells, Michael Temple, Andrea Ramirez, Robert Carroll, Travis Osterman, Todd Edwards, Doug Ruderfer, Digna Edwards, Rizwan Hamin, Joy Cogan, Andrew Glazer, Wei-Qi Wei, QiPing Feng, Nancy Cox, Dan Roden, and Josh Denny  working at VUMC; Scott Hebbring and Murray Brilliant at the Marshfield Clinic; and Wanke Zhao, Wanting Ho, and Zhizhuang Zhao at the University of Oklahoma. The work was supported by grants from the National Institutes of Health (LM010685, LM011939, LM007359, HG004603, HG006378, HG008672, HG008341, RR024975, TR000445, GM114128, GM115305, GM120523, HL133786, HG009086).         Permalink to this article               COMMENTS  |  COMMENTING POLICY   We recommend   Scientists Create Unique Disease ‘Catalog’ Linked to Immune System Gene Variations   Newswise   Vanderbilt University Medical Center Launches Nashville Biosciences   Newswise   Children at Greater Risk for Complications From Brown Recluse Spider Bites   Newswise   Vanderbilt Study Raises Questions About Reporting Incidental Genetic Findings   Newswise   VUMC Receives Five-Year Federal Grant to Help Predict How Patients Respond to Drugs   Newswise      Electronic health records may aid in identification of undiagnosed genetic diseases   Healio   Clinical use of CV genetic risk information may become common in near future   Healio   Telling patients of incidental genetic findings is questionable, researchers warn.   Jacqui Wise, The BMJ   Share your Insights and Learn How Readers Discover Content   TrendMD, Renew Publishing Consultants   Defects in tubulin assembly machinery underlie disease   Minal Chande, The Lancet Oncology   Powered by TrendMD        View All Latest News

New Methods Find Undiagnosed Genetic Diseases In Electronic Health Records

Article ID: 690981

Released: 12-Mar-2018 5:00 PM EDT

Source Newsroom: Vanderbilt University Medical Center

Add to Favorites

more news from this source

contact patient services

 

Share

 

 

Credit: Photo courtesy of Vanderbilt University Medical Center

Vanderbilt University Medical Center's Josh Denny

 

Credit: Photo courtesy of Vanderbilt University Medical Center

Vanderbilt University Medical Center's Josh Denny and Lisa Bastarache

 

Credit: Photo courtesy of Vanderbilt University Medical Center

Vanderbilt University Medical Center's Josh Denny and Lisa Bastarache

 

Credit: Photo courtesy of Vanderbilt University Medical Center

Vanderbilt University Medical Center's Lisa Bastarache

 

Credit: Photo courtesy of Vanderbilt University Medical Center

Vanderbilt University Medical Center's Josh Denny

 

Credit: Photo courtesy of Vanderbilt University Medical Center

Vanderbilt University Medical Center's Josh Denny and Lisa Bastarache

PrevNext

MEDIA CONTACT

Available for logged-in reporters only

CITATIONS

Science; LM010685, LM011939, LM007359, HG004603, HG006378, HG008672, HG008341, RR024975, TR000445, GM114128, GM115305, GM120523, HL133786

CHANNELS

All Journal News, Genetics, Healthcare, Grant Funded News

KEYWORDS

Genetics, Disease, Undiagnosed Diseases, Electronic Health Record

 

Newswise — Patients diagnosed with heart failure, stroke, infertility and kidney failure could actually be suffering from rare and undiagnosed genetic diseases.

And now researchers at Vanderbilt University Medical Center have found a way to search genetic data in electronic health records to identify these diseases in large populations so treatments can be tailored to the actual cause of the illness.

The implications for the findings reported today in the journal Science are broad and numerous — 14 percent of patients with genetic variants affecting the kidney had kidney transplants and 10 percent with another variant required liver transplants.

If their genetic cause had been diagnosed, those transplants might have been avoided.

“We started with a simple idea: look for a cluster of symptoms and diseases to find an undiagnosed underlying disease,” said Josh Denny, MD, MS, professor of Biomedical Informatics and Medicine and director of the Center for Precision Medicine.

“Then we got really excited when we saw how we could systematize it across thousands of genetic diseases to figure out the impact of millions of genetic variants,” he said.

The new method, developed by Denny, Lisa Bastarache, MS, and a team of collaborators, creates a phenotype risk score to find patterns of symptoms that may be caused by an underlying genetic variant — including some genetic variants whose effects were previously unknown.

The authors theorized that many patients currently diagnosed with issues such as heart failure, stroke, infertility or kidney failure might actually be suffering from a rare genetic disease. If that underlying disease could be identified, it may have a specific treatment preventing the symptoms from recurring or getting worse.

By merging traditional resources with newer data mining techniques, the authors assigned scores to 21,701 individuals based on how well their list of symptoms fit the clinical description of each of 1,204 different genetic diseases. The resulting phenotype risk score is high for individuals who are a close match and low for individuals who lack keys features of the disease.

“What the phenotype risk score shows us is that if you start with specific combinations of symptoms, the chances of finding a potentially causative genetic variant are pretty high. This is a really important step to using clinical genotyping to assess patient risk and inform more precise prevention and treatment of common conditions,” said co-author Dan Roden, MD, Senior Vice President for Personalized Medicine.

The researchers found 18 associations between genetic variants and high phenotype risk scores. Some are well known to geneticists, such as two variants that cause cystic fibrosis, but most of the associations were for variants that have not previously been described.

Individuals for this discovery study were drawn from BioVU, one of the largest repositories of its kind linking DNA samples to de-identified electronic health records. The team then replicated their results at a second biobank at the Marshfield Clinic and confirmed them through tests in labs at VUMC and the University of Oklahoma.

The research also provides an important insight into the nature of disease inheritance. Until now, physicians have assumed that genetic diseases called “recessive” require two mutations (one from each parent) to become symptomatic. However, the researchers found that only one variant was enough for some diseases to impact a patient’s health.

“In view of our findings, familiar medical categories such as ‘complex’ versus ‘genetic’, or ‘dominant’ versus ‘recessive’ begin to appear more like continuums,” said Bastarache, lead data scientist with VUMC’s Center for Precision Medicine. 

As genetic testing becomes more common, there is a growing need to understand the impact of genetic variants. Only a fraction of the rare genetic variants found in human beings are well understood. This study shows that looking at outcomes in electronic health records can be helpful in deciding if a variant might be disease-associated.

“Phenotype risk scoring can easily be applied in any electronic medical record system that is linked to DNA,” Bastarache said. “Our work looked at only a small sample of the human genome, about 6,000 variants. The opportunity for additional discoveries using this method is huge.”

The study unites efforts of 27 authors: Lisa Bastarache, Jake Hughey, Joy Marlo, Sara Van Driest, Tracy McGregor, Jonathan Mosley, Quinn Wells, Michael Temple, Andrea Ramirez, Robert Carroll, Travis Osterman, Todd Edwards, Doug Ruderfer, Digna Edwards, Rizwan Hamin, Joy Cogan, Andrew Glazer, Wei-Qi Wei, QiPing Feng, Nancy Cox, Dan Roden, and Josh Denny  working at VUMC; Scott Hebbring and Murray Brilliant at the Marshfield Clinic; and Wanke Zhao, Wanting Ho, and Zhizhuang Zhao at the University of Oklahoma. The work was supported by grants from the National Institutes of Health (LM010685, LM011939, LM007359, HG004603, HG006378, HG008672, HG008341, RR024975, TR000445, GM114128, GM115305, GM120523, HL133786, HG009086). 

 

Permalink to this article

 

 

COMMENTS | COMMENTING POLICY

We recommend

Scientists Create Unique Disease ‘Catalog’ Linked to Immune System Gene Variations

Newswise

Vanderbilt University Medical Center Launches Nashville Biosciences

Newswise

Children at Greater Risk for Complications From Brown Recluse Spider Bites

Newswise

Vanderbilt Study Raises Questions About Reporting Incidental Genetic Findings

Newswise

VUMC Receives Five-Year Federal Grant to Help Predict How Patients Respond to Drugs

Newswise

 

Electronic health records may aid in identification of undiagnosed genetic diseases

Healio

Clinical use of CV genetic risk information may become common in near future

Healio

Telling patients of incidental genetic findings is questionable, researchers warn.

Jacqui Wise, The BMJ

Share your Insights and Learn How Readers Discover Content

TrendMD, Renew Publishing Consultants

Defects in tubulin assembly machinery underlie disease

Minal Chande, The Lancet Oncology

Powered by TrendMD

View All Latest News