Category Archives: Gene Medicine

As companies like 23andMe and Ancestry.com help make genetic testing commonplace, you would think that we would become better at ensuring protections for the privacy of that data. Instead, multiple Congressional actions threaten to erode already-weak protections against genetic discrimination. But its not just a dystopian Gattaca future where citizens are discriminated against based on their genes that we need to be worried aboutone researcher is concerned that our inadequate genetic privacy laws will stymy science.

Its inhibiting both clinical care and research, Robert Green, a medical geneticist at Harvard Medical School, told Gizmodo.

Greens work focuses on how genomic medicine impacts peoples health and behavior. One thing hes particularly interested in is what makes people inclined to say yes to a genetic test. And hes observed one particularly big reason why people seem to be saying no: fears of genetic discrimination.

For Green and other geneticists, that makes their work harder to doresearch to, say, track how a particular gene affects a certain condition requires thousands of people to undergo genome sequencing, and the harder it is to attract those numbers, the longer it takes to do the work. Ultimately, this could mean treatments taking more time to get to patients.

But fears of genetic discrimination could also impact the health of those patients directly, if they refuse testing that could help doctors treat them.

People are concerned that if they find theyre carrying a risky gene and it goes into their medical record, it will have a bad impact in some way, Green said. Which they should be.

In 2008, Congress passed the Genetic Information and Nondiscrimination Act,(or GINA) to prohibit health insurers and employers from either requiring genetic testing or using it in making decisions about things like deductibles. The protections of GINA already do not apply to life insurance, long-term care, or disability insurance, meaning those companies are free to ask for genetic information and reject people deemed too risky. The Affordable Care Act, now in the midst of being replaced, solved another problem with GINA, protecting against discrimination for preexisting conditions revealed via genetic tests. Another bill, HR1313, currently under review in the House, would allow employers to request that employees undergo genetic testing, with the risk of paying hefty fines if they refuse.

Were injecting terrible opportunities for discrimination into the workplace, Green said.

Green has just started looking at how this impacts health care and research outcomes. In one project, early data suggests the impact may be significant.

As part of a major NIH-funded study looking at how genetic sequencing of infants impact health care, Green and his colleagues offered the parents of more than 2,500 newborns free genetic sequencing for their child. Of those, parents of 325 newborns agreed to attend an information session. Only 57 wound up participating.

Greens group is continuing to research why parents say yes or no to genetic testing. So far, Green tells Gizmodo, his investigation has revealed that privacy concerns play a role, possible a major one.

People decline genetic tests because of concerns over privacy and genetic discrimination, especially insurance discrimination, he said. This is stymying biomedical research and peoples access to healthcare.

While many are frustrated by inadequate genetic privacy protections, insurers and employers argue that theres a business reason for revealing genetic information. With more information on the risks of covering patients, insurers might be able to offer a more affordable, efficient product.

Green said that the UK offers a good example of how the US might approach its problem. There, insurers and the government have reached an agreement that both guarantees the right to insurance, and the rights of insurers to access information that may impact risk. The agreement states that insurers must establish a higher bar than typical when basing risk assessment on genetic testing data. In other words, they cant see that youre a carrier for a gene that might lead you to develop a disease, and immediately treat that gene as a preexisting condition. It also ensures consumers cant be pressured into taking a test, that tests taken in the course of medical research are exempt from being shared with insurers, and that people cant be asked to share the genetic testing information of relatives.

There are ways can we satisfy business needs of companies and also satisfy the privacy of consumers, Green said. But right now, we in the genetics community are actually aghast.

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Are Our Terrible Genetic Privacy Laws Hurting Science? - Gizmodo

New York Times

Rare Gene Mutations Inspire New Heart Drugs New York Times Added to the existing arsenal of cholesterol-reducers and blood pressure medications, the new medications will drive the final nail in the coffin of heart disease, predicted Dr. John Kastelein, a professor of vascular medicine at the University of ...

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Rare Gene Mutations Inspire New Heart Drugs - New York Times

Sacramento Bee

Will this gene-editing tool cure the diseases of the future? Sacramento Bee We delete the gene, and we investigate what changes in behavior or physiology are the result of the deletion of that gene, Wood said. The results are being compared against human medical records, and this will find potential new models and sources ...

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Will this gene-editing tool cure the diseases of the future? - Sacramento Bee

May 25, 2017

A new test, based on a patient's epigenetics, could be an accurate and inexpensive way to find and treat those at highest risk of anal cancer - a disease with growing incidence in women, men who have sex with men (MSM) and people with HIV.

The early research by Queen Mary University of London (QMUL), which was funded by Cancer Research UK, finds that the test could lead to a reduction in painful procedures and minimise the over-treatment of people at low risk.

Anal cancer is mostly caused by human papillomavirus (HPV) - the same virus that causes cervical cancer. In 2014, the UK had around 1,300 new cases of anal cancer and 360 deaths. In addition to rising levels in women and MSM, anal cancer is more common in HIV-positive MSM with around 100 cases per 100,000, compared to 25 in HIV-negative MSM, and only 1.5 in men in general.

Diagnosis presents many challenges. Full biopsies are painful, and taking a small sample of cells ('cytology') is problematic because lesions can be hidden and clinicians give varying interpretations of results. High-resolution anoscopy, where the anal canal is examined with a high resolution magnifying instrument, is often used as the primary screening tool for high-risk populations but is uncomfortable for the patient, expensive, complex and generates subjective results.

Lead researcher Professor Attila Lorincz from QMUL said: "The widespread over-treatment of anal precancerous lesions is necessary today because we don't know which ones will progress to cancer. But this creates a large burden on anoscopy clinics in the UK and the procedures can be detrimental to people's quality of life. Many people are undergoing these procedures unnecessarily, so what we really need is precision medicine to identify those who do need treatment."

The research, published in the journal Oncotarget, involved studying anal biopsy specimens from 148 patients in London, including 116 men (mostly MSM). The specimens were analysed to look for genetic markers that may be associated with the presence of anal cancer.

The team specifically looked at the patients' epigenetics and found that all of the anal cancers showed the presence of specific epigenetic methylation markers on the patients' EPB41L3 gene (a tumour suppressor gene) and also on certain regions of their viral HPV genome.

The results suggests that epigenetic testing may be an accurate and thorough method to indicate whether a patient's lesions are destined to progress to anal cancer. This could reduce the costs, pain and anxiety from other methods of diagnosis, and minimise over-treatment of low risk people.

Professor Lorincz added: "We thought this would require a complicated genomic signature involving hundreds of genes, so we were surprised that we could get such an accurate prediction from just two biomarker genes. That's important because the expected cost of the test will be fairly low.

"Now that we can identify those at risk, and conversely, those not at risk, we hope to see a big improvement, by making sure that anoscopies and laser or chemical surgery are only given to those who need it."

Once developed, the test would involve taking a small sample of cells from the anal canal via a swab and then sending the sample off to a laboratory for epigenetic analysis.

While a test could be developed within five years, the researchers caution that the results first need to be confirmed in a much larger study across the UK, and repeated using swab samples rather than the biopsies which were used in the current study.

Dr Rachel Orritt, Cancer Research UK's health information officer, said: "This study builds on what we already know about the link between changes to cell DNA and cervical cancer, and shows that similar changes to the DNA in anal cells could suggest anal cancer.

"If other studies confirm and build upon these findings, this promising research could be used to develop a less invasive method to help doctors identify people who are at a higher risk of anal cancer and avoid unnecessary procedures for those who are at a lower risk."

The researchers say that these types of biomarker - epigenetic methylation biomarkers - are important in a large number of other diseases, and could lead to a completely new approach to diagnostics and drug therapy.

Professor Lorincz explained: "These could be the early stages of a discovery of a universal set of biomarkers for any cancer. And there may be implications on therapies, as there are new techniques where the epigenetic pathway can be targeted by drugs. This is going to be the hot new area going forward in the next 15 years, so people need to be paying attention to this space."

Explore further: Most anal lesions don't cause cancer in men, research shows

More information: 'Methylation of HPV and a tumor suppressor gene reveals anal cancer and precursor lesions'. Attila T Lorincz, Mayura Nathan, Caroline Reuter, Rhian Warman, Mohamed A Thaha, Michael Sheaff, Natasa Vasiljevic, Amar Ahmad, Jack Cuzick, Peter Sasieni. Oncotarget, 2017.

(HealthDay) -- Anal human papillomavirus (HPV) infection and precancerous lesions are common among gay and bisexual men, but most of these cases will not progress to anal cancer, a new analysis of earlier research shows.

(HealthDay) -- Women with HIV are at increased risk for anal cancer, a new study finds.

Researchers at Women & Infants Hospital, a Care New England hospital, recently published the results of a study demonstrating a connection between anal cancer and human papillomavirus (HPV) infection.

The increase in anal cancer incidence in the U.S. between 1980 and 2005 was greatly influenced by HIV infections in males, but not females, according to a study published October 5 in the Journal of the National Cancer Institute.

(HealthDay)Anal cancer rates are on the rise in many countries. But vaccination against human papillomavirus (HPV)a virus linked to the development of anal cancermay help curb rates of the disease, a new study suggests.

A vaccine routinely used to shield against cervical cancer caused by the human papillomavirus also reduces women's risk of anal cancer, a study published by the journal The Lancet Oncology on Tuesday says.

Cancer is an extremely complex disease, but its definition is quite simple: the abnormal and uncontrollable growth of cells. Researchers from the University of Rochester's Center for RNA Biology have identified a new way ...

All cancer tumors have one thing in common - they must feed themselves to grow and spread, a difficult feat since they are usually in a tumor microenvironment with limited nutrients and oxygen. A study at The University of ...

A first-of-a-kind neural stem cell therapy that works with a common cold virus to seek out and attack a lethal and aggressive brain cancer is being tested at Northwestern Medicine in a Phase I clinical trial for patients ...

Scientists say they've developed a new blood test for identifying pancreatic cancera step that might eventually allow earlier diagnosis.

While target therapies directed toward genetic mutations that drive a tumor's growth have significantly improved the outlook for many patients, they have not been as successful in controlling brain metastases in several types ...

Cancers can be viewed as complex dynamic systems because they have many interacting parts that can change over time and space. Perhaps the most well-known complex dynamic system is the weather and, similar to weather forecasting, ...

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Genetic test for anal cancer could identify those at high risk - Medical Xpress

Personalized medicine, also known as precision medicine or genomic medicine, is one of the most revolutionary trends shaping the future of healthcare. What is personalized medicine? The simple definition is that it's the customization of care to an individual's genetic profile. Several publicly traded companies stand out as leaders in the field.

Exact Sciences (NASDAQ:EXAS), Illumina (NASDAQ:ILMN), and Vertex Pharmaceuticals (NASDAQ:VRTX) are pioneers in personalized medicine -- each in a different way. Here's why I think these are the three best stocks in personalized medicine right now.

Image source: Getty Images.

Exact Sciences markets the CologuardDNA screening test for colorectal cancer. Cologuard has enjoyed the strongest product launch of any diagnostic test ever, with more than 450,000 people screened since late 2014. But there's much more potential growth. There are around 80 million patients in the U.S. alone who need to be tested for colorectal cancer, but many don't get tested because they don't want a colonoscopy. Exact Sciences hopes to capture around 30% of that market.

Cologuard should continue to drive Exact Sciences stock higher in the near future, but over the long run there are even more opportunities. Exact Sciences is collaborating with the Mayo Clinic to develop a platform for early detection of cancer by identifying DNA methylation markers. (Addition of methyl groups to DNA changes gene expression and potentially lead to cancer.) Significant progress has already been made in what could be a huge new market for Exact Sciences.

Although Exact Sciences isn't profitable yet, it's headed in the right direction. Analysts project the company will grow earnings by an average annual rate of 68% over the next five years. That seems quite possible with Cologuard continuing to pick up momentum.

Illumina is the leader in genomic sequencing, an essential tool that makes the personalized medicine revolution possible. The company began operations in 1998 and launched its first DNA sequencing system in 2007. Since then, Illumina's technological innovations havereduced the cost of sequencing by a factor of more than 10,000 and have reduced sequencing time per gigabase by a factor of approximately 3,500.

The company is continuing its track record of innovation with its recent launch of the NovaSeq sequencing system. Illumina thinks that the NovaSeq architecture could lead to reducing the cost of human genome mapping to $100, which would open up genomic sequencing to more customers than ever before. Selling more systems would be great news for Illumina, but the added consumables revenue would be even better: The company makes around two-thirds of its total revenue from consumables sales.

As a well-established company now, Illumina might not enjoy the tremendous growth that it did in the early days of genomic sequencing. However, Wall Street analysts still estimate that Illumina will grow earnings by an average annual rate of 14% over the next several years, thanks in large part to great prospects for NovaSeq.

Vertex Pharmaceuticals is leading the way in the use of personalized medicine to fight cystic fibrosis (CF). The company won U.S. regulatory approval in 2012 for its first drug, Kalydeco, as a treatment for CF patients with theG551D mutation. Another approval came in 2014 for CF patients with one of 10 other genetic mutations.In 2015, Vertex received approval for Kalydeco in treating children ages two to five with specific gene mutations that cause CF.

While Kalydeco has been successful, Vertex's biggest opportunities lie with other CF drugs. Vertex is still finalizing reimbursement arrangements in several European nations for Orkambi, but Orkambi has already become the company's top-selling product. Even greater prospects could be in store for a combination of Kalydeco and tezacaftor, for which Vertex plans to file for approval in the third quarter of 2017.

Analysts think that Vertex can grow its earnings by nearly 65% annually over the next five years. Although the stock looks expensive right now with shares trading at 39 times expected earnings, Vertex remains a good pick for investors with that kind of growth potential.

Keith Speights has no position in any stocks mentioned. The Motley Fool owns shares of and recommends Illumina. The Motley Fool recommends Vertex Pharmaceuticals. The Motley Fool has a disclosure policy.

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3 Best Stocks in Personalized Medicine - Motley Fool

MOUNTAIN VIEW, CA--(Marketwired - May 15, 2017) - SENS Research Foundation (SRF) has launched a new research program focused on somatic gene therapy in collaboration with the Buck Institute for Research on Aging. Brian Kennedy, PhD, a leading expert on the biology of aging, will be running the project in his lab at the Buck.

Many potential treatments of age-related diseases require the addition of new genes to the genome of cells in the body, a technology known as somatic gene therapy. The technology has been hampered, up until now, by the inability to control where the gene is inserted. That lack of control resulted in a significant risk of insertion in a location that encourages the cell to become malignant.

SRF has devised a new method for inserting genes into a pre-defined location. In this program, this will be done as a two-step process, in which first CRISPR is used to create a "landing pad" for the gene, and then the gene is inserted using an enzyme that only recognizes the landing pad. SRF has created "maximally modifiable mice" that already have the landing pad, and this project will evaluate how well the insertion step works in different tissues.

"Somatic gene therapy has been a goal of medicine for decades. Being able to add new healthy genes will enable us to address treatments of such age-related diseases as atherosclerosis and macular degeneration. Our collaboration with SRF will substantially move us toward finding effective treatments to genetically based age-related diseases," said Dr. Kennedy.

"Partnering with Brian Kennedy and the Buck enables SRF to continue towards our goal of achieving human clinical trials on rejuvenation biotechnologies in the next five years. Brian's leadership in moving this technology into mammals is a huge step forward," said Dr. Aubrey de Grey, CSO, SENS Research Foundation.

This research has been made possible through the generous support of the Forever Healthy Foundation and its founder Michael Greve, as well as the support of our other donors. The Forever Healthy Foundation is a private nonprofit initiative whose mission is to enable people to vastly extend their healthy lifespans and be part of the first generation to cure aging. In order to accelerate the development of therapies to bring aging under full medical control, the Forever Healthy Foundation directly supports cutting-edge research aimed at the molecular and cellular repair of damage caused by the aging process.

About SENS Research Foundation (SRF)SENS Research Foundation is a 501(c)(3) nonprofit that works to research, develop, and promote comprehensive regenerative medicine solutions for the diseases of aging. SRF is focused on a damage repair paradigm for treating the diseases of aging, which it advances through scientific research, advocacy, and education. SENS Research Foundation supports research projects at universities and institutes around the world with the goal of curing such age-related diseases as macular degeneration, heart disease, cancer, and Alzheimer's disease. Educating the public and training researchers to support a growing regenerative medicine field are also major endeavors of the organization that are being accomplished though advocacy campaigns and educational programs. For more information, visit http://www.sens.org.

About Buck Institute for Research on AgingBuck Institute is the U.S.'s first independent research organization devoted to Geroscience -- focused on the connection between normal aging and chronic disease. Based in Novato, California, the Buck is dedicated to extending "healthspan," the healthy years of human life, and does so by utilizing a unique interdisciplinary approach involving laboratories studying the mechanisms of aging and others focused on specific diseases. Buck scientists strive to discover new ways of detecting, preventing and treating age-related diseases such as Alzheimer's and Parkinson's, cancer, cardiovascular disease, macular degeneration, osteoporosis, diabetes and stroke. In their collaborative research, they are supported by the most recent developments in genomics, proteomics, bioinformatics and stem cell technologies. For more information: http://www.thebuck.org.

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SENS Research Foundation Announces New Research Program on Somatic Gene Therapy With Buck Institute for ... - Marketwired (press release)