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Category Archives: Genetic Medicine
First Air Shipment of Humanitarian Trade Goods, Including Medicine, to Iran to Take Place – Iran (Islamic Republic of) – ReliefWeb
The government of the Republic of Korea continued close consultations with the United States and Iran in order to facilitate humanitarian trade with Iran with won-currency deposits made by the Central Bank of Iran (CBI) at banks in the ROK. As a result of such consultations, the ROK government resumed humanitarian trade with Iran on April 6, which was suspended after the U.S. tightened sanctions on the CBI in September 2019.
The shipment of treatments for genetic diseases to Iran on May 29 will mark the first case of shipment of goods for the recently resumed humanitarian trade and is expected to be followed by exports of medicine and medical equipment worth about 2 million U.S. dollars in June.
Building on the resumption of exports of humanitarian items, the ROK government will continue consultations with the U.S. and Iran on ways to broaden the scope of trade items to include not only medicine and medical equipment, which are currently the main trade items, but also foods and agricultural products.
CQuentia Joins American Heart Association’s Center for Health Technology & Innovation Innovators’ Network With a Focus on Precision Medicine -…
CQuentia joinsthe American Heart Association Center for Health Technology and Innovation (the Center) Innovators Network, which is focused on building and fostering health technologies and relationships in pursuit of innovative and scalable solutions across the healthcare market.
The Centers Innovators Network helps its members align and integrate their technology with the Associations science-based health management plans, called CarePlans, to encourage development and adoption of digital healthcare solutions.
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CQuentia is a next-generation sequencing FDA CLIA laboratory and data service that brings a comprehensive precision medicine platform to the Associations Innovators Network. When integrated with the American Heart Association CarePlans, CQuentia combines advanced genomics including pharmacogenomics testing and molecular genetic pathology testing to deliver reliable, accurate and actionable genetic and molecular information in concert with leading science and technology. Providers, hospitals and payers are now actively seeking the means to customize care of their patients based on this type of individualized data.
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What separates CQuentia from other genetic testing laboratories is our platform-agnostic approach to deliver solutions and our ability to create client specific reports and alerts that are personalized to target disease state and comorbidities, saidAlan Meeker, CQuentia CEO.
This endeavor aims to couple the knowledge gained from CQuentias genomic testing to drive better personal adherence and control using the Associations CarePlans and health content.
Its incredibly encouraging to see CQuentia leveraging best-in-class science from the American Heart Association with the aim of improving health education and health engagement, saidPatrick Wayte, senior vice president of the American Heart Association Center for Health Technology and Innovation.
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Myriad Presents New Data at ASCO Validating the Ability of riskScore to Provide Personalized Breast Cancer Risk Information to Patients -…
Precision Breast Cancer Risk Categorization of CHEK2 Carriers
SALT LAKE CITY, May 29, 2020 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, today announced the presentation of two new studies at the 2020 American Society of Clinical Oncology (ASCO) annual meeting demonstrating the ability of Myriads riskScore test to provide personalized breast cancer risk information that allows patients and physicians to make better informed clinical treatment decisions.
We are excited to further demonstrate Myriads commitment to providing the best possible risk assessment tools to patients through innovation, said Nicole Lambert, president of Myriad Oncology, Myriad Womens Health and Myriad International. The validation data we are presenting at ASCO this year will support a broader launch of riskScore to even more women in the coming year with more personalized information and the unique ability to modify carrier risk through a clinically validated tool.
Summaries of the studies are below. Follow Myriad on Twitter via @myriadgenetics and keep up to date with ASCO meeting news and updates by using the #ASCO20 hashtag.
riskScore Presentations at 2020 ASCO:
Title:Comprehensive breast cancer (BC) risk assessment for CHEK2 carriers incorporating a polygenic risk score (PRS) and the Tyrer-Cuzick (TC) modelPresenter:Mark E. Robson, MD, Memorial Sloan Kettering Cancer CenterLocation:https://meetinglibrary.asco.org/record/187438/abstract
In this study, 358,471 women with hereditary cancer risk who were tested with a multigene panel were assessed to find 4,331 women who were carriers of deleterious CHEK2 mutations. These patients were used to develop a mathematical model to assess risk status using family history information and Myriads riskScore test. This model was then validated in an independent cohort of 459 women. In CHEK2 pathogenic variant carriers, a significant correlation was detected of CHEK2 status with family history (FH) (p=4.1 10-17) and of polygenic risk scores with FH among CHEK2 carriers (p=1.7 10-5). Among the patients in the validation cohort, 24.0% of CHEK2 carriers were categorized as low risk (<20%), and 62.6% were categorized as moderate risk (20-50%). For 13.4% of CHEK2 carriers, risk estimation incorporating PRS and TC generated BC risks of greater than 50%, consistent with genes recognized as highly penetrant.
To view Graph 1: Precision Breast Cancer Risk Categorization of CHEK2 Carriers,please visit the following link:https://www.globenewswire.com/NewsRoom/AttachmentNg/1a4a8828-8282-47df-9e4d-b82f11604b2b
Title:Performance of the IBIS/Tyrer-Cuzick (TC) Model by Race/Ethnicity in the Womens Health InitiativePresenter:Allison W. Kurian, M.D., M.Sc, Stanford UniversityLocation:https://meetinglibrary.asco.org/record/185965/abstract
In this study, 91,893 women of differing racial identities with no personal history of breast cancer were followed for a median of 18.9 years to assess incidence of breast cancer. 6,836 new cases of breast cancer were diagnosed among the women. The Tyrer-Cuzick model was used to assess risk of breast cancer and then actual cases of breast cancer were compared to expected cases based upon the Tyrer-Cuzick risk assessment. The study found that the Tyrer-Cuzick model was an accurate predictor of breast cancer risk among various ethnicities except for Hispanic women where it overestimated breast cancer risk (ratio of observed versus expected cases overall was 0.95).
About riskScoreriskScore is a new clinically validated personalized medicine tool that enhances Myriads myRisk Hereditary Cancer test. riskScore helps to further predict a womens lifetime risk of developing breast cancer using clinical risk factors and genetic-markers throughout the genome. The test incorporates data from more than 80 single nucleotide polymorphisms identified through 20 years of genome wide association studies in breast cancer and was validated in our laboratory to predict breast cancer risk in women of European descent. This data is then combined with a best-in-class family and personal history algorithm, the Tyrer-Cuzick model, to provide every patient with individualized breast cancer risk.
About Myriad myRisk Hereditary CancerThe Myriad myRisk Hereditary Cancer test uses an extensive number of sophisticated technologies and proprietary algorithms to evaluate 35 clinically significant genes associated with eight hereditary cancer sites including: breast, colon, ovarian, endometrial, pancreatic, prostate and gastric cancers and melanoma.
About Myriad GeneticsMyriad Genetics Inc., is a leading personalized medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on three strategic imperatives: transitioning and expanding its hereditary cancer testing markets, diversifying its product portfolio through the introduction of new products and increasing the revenue contribution from international markets. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.
Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, Vectra, Prequel, Foresight, GeneSight, riskScore and Prolaris are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.
Safe Harbor StatementThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements related to a broader launch of riskScore to even more women in the coming year with more personalized information and the unique ability to modify carrier risk through a clinically validated tool; and the Companys strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: uncertainties associated with COVID-19, including its possible effects on our operations and the demand for our products and services; our ability to efficiently and flexibly manage our business amid uncertainties related to COVID-19; the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decisions in Mayo Collab. Servs. v. Prometheus Labs., Inc., 566 U.S. 66 (2012), Assn for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013), and Alice Corp. v. CLS Bank Intl, 573 U.S. 208 (2014); risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.
Can Faith and Science Co-exist? Former Atheist Dr. Francis Collins Believes They Can – Science Times
Dr. Jim Denison, the founder of Denison Forum, recently shared about how his son's rare cancer led him to meet Dr. Francis Collins. Dr. Denison honored the geneticist in a recent article about the transformation of Dr. Collins atheism into faith and how it can co-exist with science.
Jim Denison and Jeff Byrd founded the Denison Forum in 2009 to 'encourage spiritual awakening while equipping believers to engage with' daily news and issues. With a biblical perspective, readers can read about current events and 'share the timeless truth of God's word with a changing culture.'
Dr. Denison wasn't always a man of faith. His father was an active man in church with the potential for vocational ministry until he enlisted for World War II. Trauma caused the soldier to never attend a church service again.
Although Dr. Denison's father was loving and supportive, the lack of a spiritual at home left the boy with all of his father's questions about faith. When he was in college, his father died of a heart attack related to the skin disease he contracted while on duty at war.
At fifteen years old, Denison first heard the gospel on his community's Baptist church bus. Although he didn't understand much of what was being shared, he saw that everyone had things he lacked - peace, joy, and a sense of purpose. He started attending Sunday school every weekend and was eventually led to know Christ by his Bible study teacher.
Denison's life was changed when a friend gave him a copy of C.S. Lewis' Mere Christianity, an Oxford graduate who explained his faith on an intellectual level. C.S. Lewis was an atheist turned believer and continues to bring many to Christ through his writings.
Dr. Collins encountered the same book while he 'was a committed atheist while a graduate student in quantum mechanics at Yale University.' Believing that everything in the universe can be described through an equation, he thought that if God did exist, He 'was probably somebody who was off somewhere else in the universe; certainly not a God that would care about me.'
After a personal crisis, he decided to go to medical school to try and explore the more human side of science which was biology. Collins began exploring faith questions after encountering several 'patients whose faith was deeply significant and empowering for them.' Witnessing all this 'was interesting and puzzling and unsettling,' said the doctor as he shared his testimony.
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'I had made a decision to reject any faith view of the world without ever really knowing what it was that I had rejected. And that worried me. As a scientist, you're not supposed to make decisions without the data.'
At 27 years old, Dr. Collins surrendered his life to God, and all of his scientific research as well. Collins led the Human Genome Project, sequencing three billion DNA letters. The research had been 'basis for genetic breakthroughs that are revolutionizing medicine,' winning Collins the Presidential Medal of Freedom and the National Medal of Science.
'The Language of God,' is the bestselling book by Collins which describes his view of 'science and the natural world while embracing God and the supernatural.' The sequel, 'The Language of Life,' talks about the genetic revolution which is changing medicine on profound levels. Dr. Denison shares that Dr. Collin's 'story makes this fact clear: God calls us to love him "with all your mind" (Matthew 22:37).'
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On this page:BasicsInherited CausesAcquired CausesRisk FactorsCancer and DietWays to Prevent Cancer
So heres a question you might havewhat causes cancer in the first place? And is there anything you can do to prevent getting the disease? Well, yes. While you cant bring your chances of a diagnosis to zero (if only!), theres plenty to know about what causes cancer and ways to reduce your risk. Read on for the knowledge you need to stay as healthy as you can.
Before examining the causes of cancer, lets get clear on what the disease actually is: Cancer comes to be when abnormal cells grow out of control, anywhere in your body, due to mutations in our cells DNA. While normal cells divide, get older and die in a predictable fashion, copying DNA as they go, cancer cells are rebels without a cause. They dont die, and instead, mutate, replicate and form tumors.
Where these cells start growingthe primary site of your cancerdetermines the type of cancer you have. When those cells spread through your blood or lymphatic system (the network of tissues and organs that flush out toxins, waste, and all sorts of undesirables), the areas they invade are called metastatic sites.
One thing to note: A cell can be abnormal without necessarily being cancerous (also known as malignant). Rather, it could be benign (not cancer), or precancerous or premalignant (likely to become cancer). Screening and testing enables doctors to investigate exactly what youre dealing with.
You understand that cancer develops when abnormal cells grow out of control, invading parts of the body where they shouldnt, but why do they start doing that? How do cancer cells come to be?
Cancer, put simply, is caused by changesa.k.a. mutations to our cells DNA. This can happen for two reasons: inherited mutations and acquired mutations. Lets look at both more in-depth.
About 5% to 10% of all cancers are inherited, known as familial or hereditary cancers. Many cancer mutations happen in the DNA of our genes, which is why youve heard so much about genetic factors. For instance, if youre a woman with one first-degree female relative (sister, mother, daughter) diagnosed with breast cancer, your risk for breast cancer is doubled. If two first-degree relatives have been diagnosed, your risk is five times higher than average. Here are some common gene mutations:
BRCA1 (BReast CAncer gene one) and BRCA2 (BReast CAncer gene two) are tumor suppressor genes we all have. When those genes mutatemeaning they arent able to fix the cellular DNA as they shouldyoure at a higher risk for different types of cancer, most notably breast cancer. The average woman in the U.S. has about a 1 in 8, or 12%, risk of developing breast cancer in her lifetime, while those with the BRCA1 and BRCA2 gene mutations (either one, or both) have up to a 72% risk.
Angelina Jolie stirred up controversy when she wrote about her preventative double mastectomy in The New York Times in 2013. Her reason for surgery? She has an inherited genetic mutation in the BRCA1 gene. But men with BRCA1 and BRCA2 mutations are also at risk of breast cancer. Singers Beyonc Knowles-Carter and Solange Knowles father, Mathew Knowles, revealed he has the BRCA 2 mutation and had breast cancer in October 2019. Men with these gene mutations are at a higher risk of breast cancer than men without, at eight times greater than average.
Women with these gene mutations are also at higher risk than the generation population for ovarian cancer. More numbers: For women without these mutations, about 1.3% will develop ovarian cancer in their lifetime. In women with the BRCA1 mutation, about 44% will develop the disease by 80; in women with the BRCA2 mutation, 17%.Other cancers that women and men with these mutations are potentially at higher risk for include:
Men with BRCA1 or 2 genetic mutations are at higher risk for prostate cancer, too. Those with mutated BRCA1 genes are at slightly higher risk, while those with the BRCA2 mutation are seven times more likely to develop prostate cancer than men with the normal gene.
This isnt the only kind of inherited genetic mutation, and researchers are studying other possible mutations that cause cancer.
Lynch syndrome (also called hereditary non-polyposis colorectal cancer) can be caused by a mutation in whats known as mismatch repair (MMR) genes MLH1, MSH2, PMSI, and PMS2. This syndrome puts you at higher risk for developing a long list of cancers:
Another syndrome to know: Li-Fraumeni syndrome. Its rare, but associated with a higher risk for sarcoma (a rare cancer that grows in connective tissue like muscles, fat and blood vessels), including osteosarcoma and soft-tissue sarcomas. Its also linked to:
Inherited mutations connected to this syndrome include the TP53 gene and CHEK2 gene, both tumor suppressor genes.
When two or more first-degree relatives are diagnosed with melanoma, its known as familial melanoma. The inherited condition has been linked to two genes, CDKN2A and CDK4, but other genes could be at play, because these dont account for all cases of familial melanoma.
Why does this all matter? Because knowing if you have an inherited mutation linked to cancer can help predict if youre at an increased risk for the disease. That can help you get diagnosed in earlier stages, when treatment success rates are higher. However, for this knowledge to make a difference, you of course need to be tested for genetic mutations before you suspect cancer. Ask your doctor if it makes sense for you to be tested, particularly if you believe youre in a high-risk group.
The rest of cancers that are diagnosedabout 90% to 95%are caused by genetic mutations that crop up as we live our lives, sometimes by exposure to carcinogens (anything known to cause cancer). Experts call these cancers non-hereditary or spontaneous cancers.
The good news? Through simple (though definitely not always easy) lifestyle changes, you can help reduce your exposure to carcinogens and slash your cancer risk.
If you think its too late for any healthier-living upgrades you adopt to have an impact, know this: Even making lifestyle changes during cancer treatment can be helpful in reducing your risk of recurrence, according to the Centers for Disease Control and Prevention (CDC), as well as making you as strong as possible for cancer treatment. So its rarely too late to change for the better.
So what factors hike up your chances of getting cancer? Heres one none of us can do much about: Getting older. Approximately 80% of all cancers in the U.S. are diagnosed in people 55 years of age or older.But dont throw up your hands and cry uncle: At least 42% of newly diagnosed cancers in the U.S. (about 740,000 cases in 2019) might be preventable, researchers have found. The biggest contributors? About 19% of all cancers are caused by smoking and 18% triggered by a dangerous combo of excess weight, physical inactivity, excess alcohol consumption, and poor nutrition.
Lets look at these causes more closely, courtesy of the National Cancer Institute (NCI):
Alcohol Use. Even light drinkers (those who have no more than one drink per day) as well as binge drinkers (considered four or more drinks for women, and five or more drinks for men, in one sitting, in about two hours) have a modestly increased risk of some cancers. Alcohol could be a factor in the following cancers:
Tobacco Use. File under Things You Already Knew: Smoking increases your risk for cancers, including lung cancer. It isnt the nicotine thats the problem, either: Its just one of many, many chemicals in tobacco and some of those, including tar, are known carcinogens. Turns out, nicotine isnt! Cigarette smoke itself contains high levels of acrolein, a chemical thats toxic to the lungs, which is why secondhand smoke is dangerous too.
Obesity. Being overweight may put you at an increased risk of several types of cancer. These include:
Cancer-causing Substances. Were exposed to carcinogens in the form of environmental toxins, such as asbestos or benzene, that can lead to a variety of cancers, including lung cancer.
Radiation. Have you seen the award-winning HBO miniseries Chernobyl, about the nuclear accident in 1986 in Ukraine that released radioactive material into the air? Then youll have seen evidence of what radiation can do to the body, including causing cancers of the thyroid and bladder.
Sun exposure. Its why we slather on sunscreen and try to avoid basking when the ultraviolet rays are at their most intense: To prevent skin cancer. You skin tans or freckles to absorb the UV rays and protect their cells DNA from damage, but the damage can still occur. When it does, compromised cells grow out of control, resulting in melanoma (the deadliest of all skin cancers), basal cell carcinoma or squamous cell carcinoma, depending on the affected cell.
Hormones. Did you know that estrogens, a type of female sex hormones, are known human carcinogens and make women more susceptible to certain types of cancer? You may be familiar with the potential link between hormone replacement therapy (HRT) and estrogen-dependent cancers, like estrogen receptor (ER) positive breast cancer. The relationship between the two has been a source of controversy, even after findings from the Womens Health Initiative Hormone Trials, a large prospective study on the topic, were published in the early 2000s. Results showed that HRT resulted in:
If youre on this therapy or considering it, talk to your doctor about your risk factors.
Chronic Inflammation. This can be brought on by chronic infection, abnormal immune reactions, or conditions such as obesity, the NCI reports, and can lead to several types of cancer.
Immunosuppression. People on immunosuppressive drugs (medications that weaken the immune system) or those that have HIV/AIDS are at increased risk for some cancers.
Infectious Agents. Infections such as Human Papillomaviruses (HPVs), Hepatitis B and Hepatitis C viruses, and Helicobacter pylori (H. pylori), among others, can cause cancer, including liver or stomach, respectively.
Weve talked about environmental triggers as well as what you puff and drink, but how about what you put on your plate? Do some foods cause cancer?
The short answer: We dont really know. Its been tough for researchers to pinpoint specific links between food, nutrients, and cancer, for multiple multiple reasons, including:
A single food can contain substances that could both lower and increase risk, simultaneously.
We eat many different foods and drinks, creating interactions that pose challenges to research.
How much of a certain food you eat can change its impact in your body.
How food is prepared could influence its risk and benefits, too.
So as you can see, its not an avoid-these-5-foods-and-youll-be-fine situation when it comes to cancer risk. What we do know is that fruits and vegetables likely lower the risk of several cancer types, including:
And meat might be an issue: Eating processed meat (like sausages, salami, hot dogs, ham and bacon) in any amount and more than about 18 ounces of fresh meat per week were most strongly linked with a higher risk of cancer.
While theres no method for cutting your cancer risk to zero, researchers and doctors have IDed ways that you can reduce your risk, including:
Making sure you get appropriate cancer screenings when you reach the recommended age is essential to finding cancer early, when its most treatable. Follow recommendations from the CDC for screenings, including those for breast cancer, cervical cancer, colorectal cancer and lung cancer.
Stubbing out the butts (with help if you need it, no shame there!) is vital to reducing your cancer risk. If you live with someone who smokes or youre around secondhand smoke on a regular basis, reduce your exposure as much as possible.
Cut back your alcohol consumption to lower your risk. Dialing it down to about one drink per day for women, two for men, or cutting out alcohol altogether could be one of the best decisions youve ever made. A drink is defined as:
If youre overweight or obese, shedding pounds is an important step in cancer prevention. We dont yet know why being overweight or obese could cause the disease, but its a known risk factor in a host of cancers.
Get moving at least 30 minutes a day to help you stay fit as well as lose weight, both of which can keep your cancer risk in check. No need to go to extremes--brisk walking is great!
Think lots of fruits, vegetables, whole grains and lean proteins.
Whatever the weather, year round, wear SPF 30 on your face and exposed areas of your body. Look for one that says broad spectrum, which means it shields skin from both UVA and UVB rays (both are linked to skin cancer). Try to avoid being in the sun between 10 a.m. and 4 p.m., when the rays are most intense.
If you live near or on an environmentally toxic site, or are exposed to toxic chemicals through your job, you should know about your possible exposure to known carcinogens. The United States Environmental Protection Agency (EPA) has a search function on their site, so you can get wise to Superfund sites (contaminated areas the EPA is working to clean up) near where you live.
These can include unsafe sex (wear a condom) and dont share needles (and seek professional help for addiction), both of which can lead to increased risk for certain cancer types.
Even with following all these preventative measures, theres no guarantee that youll never get cancer, but you will greatly reduce your risk. And youll feel a whole lot better, ensuring you live all the healthy days youre given to the maxno better goal than that!
Its not nicotine, as you might think. While alkaloid nicotine is the addictive part of tobacco, its not a known carcinogen. That honor goes to more than 60 well-established carcinogens in one cigarette. Remember that a carcinogen is a cancer-causing substance, so youre breathing in toxicity with each puff. Here are just some of the chemical classes of carcinogens found in cigarette smoke: polycyclic aromatic hydrocarbons (PAHs), N-nitrosamines, aromatic amines, aldehydes, volatile organic hydrocarbons, and metals.
Its tough for researchers to find hard and fast links between food and cancer risk for a host of reasons, including how some foods include nutrients that might both lower and raise risk, so its good to be cautious about assigning cancer risk to food. What we do know: Processed meat in any amount and more than about 18 ounces of fresh meat per week were most strongly linked with a higher risk of cancer.
Heres the deal on alcohol and cancer: Its one of the few substances consistently linked to an increased risk of cancer (tobacco is another). What you drink doesnt seem to make much of a difference, either. Researchers dont yet know why this link exists, but they have ideas. Two chemicals in alcohol, ethanol and acetaldehyde, can cause damage to the DNA of healthy cells. By abstaining or limiting the number of drinks you have, you can lower your risk. Women: Drink no more than one drink per day. Men: Drink no more than one to two drinks a day.
High-risk types of human papillomavirus (HPV) can cause cervical cancer in women, according to the National Institutes of Health. HPV infections can happen to men too, and lead to penile cancers. HPV can also cause cancers of the mouth, throat, and anus in both women and men. Use a condom and lower your risk for all!
Inherited Cancers: American Cancer Society. (2018). Family Cancer Syndromes. cancer.org
BRCA1, 2 Genetic Mutation: Journal of Cancer. (2019). BRCA Genes: The Role in Genome Stability, Cancer Stemness and Therapy Resistance, ncbi.nlm.nih.gov
BRCA1, 2 Mutations and Men: BreastCancer.Org. Men With BRCA Mutations Have Much Higher Risk of Cancer. (2017). breastcancer.org
Familial Melanoma: Cancer.Net. (2018). Familial Malignant Melanoma. cancer.net
Mutated Genes: The European Molecular Biology Organization. (2013). Function of oncogenes in cancer development: a changing paradigm, ncbi.nlm.nih.gov
Cancer Prevention: Mayo Foundation for Medical Education and Research. (2020). Overview, Prevention. mayoclinic.org
Cancer Risk Factors: National Cancer Institute. (2015). Risk factors for cancer. cancer.gov
Age and Cancer Risk: American Cancer Society. Cancer Facts & Figures 2019. (2019). cancer.org
Alcohol and Cancer Risk: Cancer.Net. (2017). Alcohol. cancer.net.
Smoking and Cancer Risk: Sultan Qaboos University Medical Journal. (2013). Tobacco Smoking and Lung Cancer: Perception-changing facts, ncbi.nlm.nih.gov
More on Smoking and Cancer: Centers for Disease Control and Prevention (US); National Center for Chronic Disease Prevention and Health Promotion (US); Office on Smoking and Health (US). (2010). How Tobacco Smoke Causes Disease: The Biology and Behavioral Basis for Smoking-Attributable Disease: A Report of the Surgeon General. ncbi.nlm.nih.gov
Weight and Cancer Risk: American Cancer Society. (2018). Does body weight affect cancer risk? cancer.org
Food and Cancer: Cancer.Net. (2019). Food and Cancer Risk. cancer.net
Cancer Screening Recommendations: Centers For Disease Control and Prevention. Screening Tests. cdc.gov/cancer/dcpc/prevention/screening.htm
Search for Superfund Sites: The Environmental Protection Agency (EPA). Search for Superfund Sites Where You Live. epa.gov/superfund/search-superfund-sites-where-you-live
For cancer treatment and more, genetic-based precision medicine holds a lot of promise – Connecticut Magazine
A month following surgery for thyroid cancer, a Hartford Hospital patients tumor grew to 10 inches. The case was presented to the hospitals tumor board, which involved 30 doctors from different specialties.
The gene mutation found to be controlling the patients tumor growth was already well-established as a driver of melanoma, the deadliest form of skin cancer, says Dr. Sope Olugbile, medical oncologist at Hartford HealthCare.Chemotherapy wouldnt work fast enough against the aggressive tumor. Tumor board members recommended a targeted therapy already treating patients with melanoma. Without that genetic information, we wouldnt have been able to come up with that therapy, he says. The treatment saved the patients life, so far. Our goal is to use more of the genetic information to drive the treatment of cancer patients.
This type of personalized care, known as precision medicine and its subset, genomic medicine, has been offered for years at world-renowned cancer-treatment hospitals such as Memorial Sloan Kettering Cancer Center in New York, Dana-Farber Cancer Institute in Boston and University of Texas MD Anderson Cancer Center in Houston. Its now the standard of care in Connecticuts Hartford HealthCare Cancer Institute, UConn Health Center in Farmington, Connecticut Childrens Medical Center in Hartford and Smilow Cancer Center at Yale New Haven Health.Cancer therapy has become precision therapy, says Dr. Roy Herbst, professor of medicinal oncology and pharmacology, and chief of medical oncology at Yale Cancer Center and Smilow Cancer Hospital.
Dr. Roy Herbst, of Yale Cancer Center and Smilow Cancer Hospital, says that precision care is often used in cancer treatment these days.
While its most commonly used with cancer patients, precision medicine is also making inroads into other areas of health care including the treatment of some cardiac patients. Its also being studied and used on a limited basis to treat those with rare diseases. In the U.S., newborns are screened with a blood test for hearing loss and heart defects. If detected and treated early, this can prevent death and disability in some cases. For some doctors and researchers, precision medicine holds the promise of effective targeted diseases and chronic conditions, and, even more revolutionary, the chance to prevent illness before it arises. The race is on to gather as much data as possible in order to increase understanding of the connection between genes and overall health; here in Connecticut, Yales Center for Genetic Health last fall launched its Generations project to collect DNA from 100,000 volunteers (see sidebar below).
Precision medicine involves the study of human genes, called the genome. The human genome contains 23 pairs of chromosomes within all human cells, and each chromosome contains hundreds to thousands of genes. Using high-level computing and mathematics, genomics researchers analyze massive amounts of DNA-sequence data to find variations or mutations that affect health, disease or response to drugs, according to an online description by The Jackson Laboratory for Genomic Medicine in Farmington.
Researchers can sequence an entire tumor to look for markers or abnormalities that can be treated with a targeted medication that attacks that mutation, unlike traditional chemotherapy that kills healthy cells along with cancer cells, says Herbst, also associate director for translational science at the Yale School of Medicine.
These days, when Yales precision medicine tumor board meets weekly, they dont focus on where the tumor began, he says. They look at what errors occurred in the DNA of the tumor, because once they know whats driving the tumor, they can treat it.For example, lung cancer is the most common cancer in the world. When a nonsmoker gets lung cancer, doctors sequence the tumors DNA to see if it contains one of eight genes known to mutate.
Each cancer cell has about 18,000 to 20,000 genes, and there are some cancers where just one of those genes is directing the growth of the cancer, Olugbile says. We call that the driver gene. The other 17,999 are just following the lead of that driver gene, he says. That means if we tag just that one gene with the medication then we can actually shut down the growth of the entire cancer.
Traditional chemotherapy can only be given for 4-6 months because of the side effects, while targeted oral medications have very few side effects and patients remain on them for an average of two years, Olugbile says.
In the past five years, genetic testing has become standard of care for some cancers specifically colon, lung and melanoma because those types of cancers tend to have genetic mutations that have been known to respond to therapy, says Sara Patterson, manager of clinical analytics and curation at Jackson Labs, which works with UConn and Yale researchers.But targeted therapy is not a cure-all, and researchers are still a long way from using precision medicine to treat all cancer patients. Even if cancers have the same genomic change and mutation, theres no guarantee they will all respond to the same therapy, she says.Overall, precision medicine is only effective at stopping the spread of cancer in an average of 20 percent of cancer patients treated, Olugbile says, with variations by cancer. Sometimes the cancer returns because the tumor changes to resist the therapy, Patterson adds.
As doctors and researchers do more genomic sequencing, the data pool will grow and so will knowledge of what medications work most effectively against various tumor types.The more information we gather, the better well know how to treat specific patients, Patterson says.
Reimbursement from insurance companies can be a challenge. If precision treatment for a particular type of cancer hasnt been approved by the insurance industry, its difficult to get reimbursed for genomic testing, says Sue Mockus, director of product innovation and strategic commercialization at Jackson Labs.Its a catch-22. Even though a patient with pancreatic cancer could benefit from a targeted therapy, unless that patient is part of a clinical trial that would pay for the genomic testing, the patient would have to pay out of pocket, the annual cost of which can run into the hundreds of thousands of dollars. If you do have a mutation identified and your physician wants to give you the medication off label, you have to fight with the insurance company, Mockus says.
Experts have suggested a value-based approach to precision medicine, reports the International Journal of Public Health. This means policy decisions about reimbursement and investment in research and development will factor in how long patients lives are prolonged and the quality of those lives, the Journal reports.
Oncologists also offer cancer patients immunotherapy, another form of personalized medicine, Patterson says. Theyre using diagnostic tests on tumors, independent of genomic sequencing, to determine if their tumor profiles make them a good immunotherapy candidate. Immunotherapy is approved for multiple tumor types, as long as they have certain markers, she says.
Former President Jimmy Carter became cancer free after receiving radiation and immunotherapy to treat the melanoma that had spread to his brain and liver. While immunotherapy can cure cancer for some, its only effective about 20 percent of the time, Olugbile says. It varies a bit by cancer, with some cancers having a higher success rate, he adds.
Through a collaboration with Memorial Sloan Kettering, Hartford HealthCares Advanced Disease Clinic was scheduled to open this spring to give patients even more options, he says. If targeted therapies and immunotherapies dont work or are not a match for patients, doctors will look for suitable clinical trials that offer potential treatments, Olugbile says.Our goal is to create awareness on two fronts, one is among the doctors. Yes, we are available to help if patients have gone through standard of care who didnt respond, he says. Its also an option for patients who want to be treated with precision medicine closer to home. The goal is to make it available so they dont have to go to New York or Boston, he says. Its right here in Hartford and hopefully at other cancer centers over time.
From Yale, Herbst leads a clinical trial through the National Cancer Institute where he and his team are trying to match the right patient to the right drug.Every tumor is getting sequenced. Thats accelerating the field. The sequencing techniques have gotten cheaper and faster, so we can analyze them at the point of care, Herbst says. This is why clinical trials are so important. Whats a clinical trial today is standard of care tomorrow.
In a study published in the journal Science Translational Medicine, a multi-institutional research team including a Connecticut doctor developed an advanced method to analyze existing data from thousands of clinical trials, comparing which genes FDA-approved drugs work against to the genes active in pediatric brain tumor patients. This sped up the lengthy process of developing cancer drugs.
Dr. Ching Lau, head of the oncology-hematology division at Connecticut Childrens Medical Center and the pediatric oncology-hematology department at UConn School of Medicine, is accessing the World Community Grid, an IBM-funded program that allows researchers worldwide to perform tens of thousands of virtual experiments. Instead of screening thousands and thousands of compounds to try to find a potential drug, we found we could use genomics data already available and do a more systems-approach analysis to figure out the predominant pathways driving the tumor cells, Lau, professor at The Jackson Laboratory, says in an email. Then we asked if there were any existing FDA-approved drugs that could potentially modulate those pathways.
The researchers identified eight drugs that could potentially fight medulloblastoma (MB) tumors, the most common malignant brain tumor in children. One of the drugs showed an increased survival rate in mice with MB tumors, and a clinical trial is being pursued.
Personalized medicineand heart disease
Precision medicines applications have expanded beyond cancer care. At first, much heart disease research relied on a genetic analysis of whether someone was predisposed to a disease. Thanks to a growing database of patient information that is shared worldwide, researchers can mine huge data sets with hundreds of thousands of cases for patterns and abnormalities that lead to discoveries, says Beth Taylor, associate professor of kinesiology at UConn and director of exercise physiology research in cardiology at Hartford Hospital. Researchers and clinicians know that about half the people who have heart attacks dont have the typical risk factors such as high blood pressure, obesity and diabetes. To determine why physically active people with healthy diets have heart attacks, researchers are using precision medicine to comb through large studies to find small predictors, Taylor says. Often the influence of any one factor is hard to detect unless you have a big sample size, she says.
The National Institutes of Health requires grant recipients to share their data to a national registry so that researchers have access to big data, she says. (Personal information such as date of birth, name and address are removed from files used for research studies.)
When we first began to really measure genetic variations, it was believed that was going to be the big hope in treatment, Taylor says. But genes are complex and environmental factors modify genetics for multiple generations.
For the first time ever, weve got wide-scale computing ability to analyze huge data points. This can better allow us to predict disease progression and optimize treatment, she says. Many of us would say that this concept of big data is as or more important than genetic risk. Genetic risks are not the whole picture.
For the first time ever, weve got wide-scale computing ability to analyze huge data points. This can better allow us to predict disease progression and optimize treatment.
Progress with diabetes
Precision medicine is not widely used in the treatment ofdiabetesin the U.S., except when it comes to a rare form of diabetes called neonatal diabetes mellitus. While type 1 and type 2 diabetes are controlled by two or more genesand additional genetic factors,neonatal diabetes mellitus involves a single gene and develops in babies under 6 months old.
Through genetic testing of babies with elevated blood sugar levels,researchers learnedthat about half the patients have gene mutations that respond well to a pill used to treat type 2 diabetes and they dont need to be on insulin for the rest of their lives like type 1 diabetics, says Karel Erion,director of research stewardship and communications for the American Diabetes Association.
When infants show signs of type 1 diabetes at Yale New Haven Childrens Hospital or Connecticut Childrens Medical Center, they are automatically tested for neonatal diabetes, hospital doctors say.
An example of precision medicine as a predictor of disease is the TrialNet database, which uses genetic testing to determine whether the relatives of those with type 1 diabetes have two or more of the five diabetes-related autoantibodies (proteins produced by the immune system directed against the persons own proteins) linked to increased risk of developing type 1 diabetes. Type 1 diabetics must take insulin for the rest of their lives to survive, and theres no known way to prevent the autoimmune disease. Type 1 diabetes, formerly called juvenile diabetes, typically strikes children and adolescents, causing the pancreas to stop producing insulin, a hormone needed to process sugar, or glucose, from food. Type 2 diabetes was formerly known as adult-onset diabetes, but the disorder is being seen in more children, thought to be the result of a rise in childhood obesity. Screening identifies the early stages of the disease years before any symptoms appear, according to the TrialNet website.
In a study published in the New England Journal of Medicine, researchers from the TrialNet Study Group, led by Yale Universitys Dr. Kevan Herold, found that an experimental medication delayed the onset of type 1 diabetes in high-risk participants by two years compared to the control group. The disease was diagnosed in 43 percent of the participants who received the medication, teplizumab, and 72 percent of those who received the placebo.
Alzheimers disease and dementia
Only 1 to 3 percent of the 5 million people living with Alzheimers disease have a genetic mutation that leads to whats called genetic or familial Alzheimers. But one in three older adults will eventually develop some form of dementia, says Rebecca Edelmayer, the Alzheimers Association director of scientific engagement.
Like other diseases that strike large segments of the population, researchers rely on big data to learn about Alzheimers and which genes play a role in who gets it.Researchers have learned that there are several risk factors that contribute to dementia, she says. Specifically, the presence of heart disease, high blood pressure, diabetes, social and cognitive isolation, poor nutrition and the level of education, can contribute to cognitive decline, she says.
Scientists from around the world share research data and draw from data in the Global Alzheimers Association Interactive Network, she says.The field has made some dramatic advances in understanding of how genetics play a role and how other underlying diseases play a role, Edelmayer says. We need to give doctors evidence-based recommendations.
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For cancer treatment and more, genetic-based precision medicine holds a lot of promise - Connecticut Magazine