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Tag: genetic testing

  • COVID-19 and Genetic Testing

    COVID-19 and Genetic Testing

    Last spring, President Joe Biden set a goal for 70% of American adults to be vaccinated in time for July 4th.  As of May 2021, 50% of Americans have been at least partially vaccinated against the disease.  While the feat is substantial, it has not put pandemic risks to an end just yet.  A decline in new demand for shots has left the president’s goal uncertain.  Despite not being close to herd immunity levels (which would require 70% to 85% of a population to be vaccinated, many states have lifted their COVID-19 related safety restrictions.  Public compliance with social distancing is on the decline.  For as long as the US is not at herd immunity, this behavior allows highly contagious and (eventually) vaccine-resistant variants to spread. COVID-19 and genetic testing can solve a lot of these issues.

    When Will the US Reach Herd Immunity?

    The issue stretched beyond US borders.  Despite problems in allocation and convincing people to take the vaccine, the US is far ahead of most countries in its vaccination efforts.  Current estimates predict the United States will reach herd immunity levels of vaccination by late this year.  Compare that to most of Africa and parts of Eastern Europe, Asia, and Latin America, who will take until at least 2023 to do the same. 

    In the meantime, 2 in 3 epidemiologists believe that mutations in the virus will render first-generation vaccines ineffective by 2022.  88% agree that low vaccination rates in some countries will allow vaccine-resistant strains to develop.  So by the time most of the world has gotten a vaccine, the vaccine will no longer be enough to end the pandemic.  Another round of mass vaccination will be needed, and unless the second one rolls out considerably faster than the first, this pattern will become entrenched in the lives of billions.

    It is frustrating to know there is no certain end to the pandemic at this time.  The knowledge that strangers on the other side of the world are every bit as responsible for ending the pandemic as one’s self and neighbors.  “[I]n a pandemic of course we’re only safe if we’re all safe,” as Seth Berkley, CEO of Gavi, the Vaccine Alliance put it. 

    High Risk Identification

    What steps can people take in the meantime?  For people who are at high risk for severe coronavirus symptoms, this question is extremely pressing.  From liver disease to diabetes to pregnancy, there exist a wide swath of people with comorbid conditions.  While the rest of the population only maintains routine precautions like washing their hands and wearing masks in certain areas, at-risk people may continue to socially distance and avoid crowds.

    For those who don’t know their own risk, GeneType COVID-19 Risk Test is there to help.  Right now, 1 in 4 adults could be incorrectly categorized for their risk of developing severe symptoms.  This at-home kit seeks to fix that by considering 16 comorbidities and genetic markers.  It improves risk prediction by 25% over standard clinical models and users receive their risk score in a detailed personal report in 5-7 days.

    Fighting COVID-19: Know Your Risk

  • Angelina Jolie Raised Much Awareness by Sharing Double Mastectomy Experience

    Angelina Jolie started what is now referred to as the “Angelina Effect” when she shared publicly she had undergone a double mastectomy to prevent breast cancer back in May of 2013.

    Testing positive for a mutation in the BRCA1 gene, which significantly raises the chances of developing breast cancer, Angelina Jolie opted to undergo the preventative surgery. In doing so she significantly raised awareness about the disease.

    She also raised awareness about the use of women’s fat tissue in the breast reconstruction process. In addition, women have learned that in most cases they can have reconstructive surgery at the same time they have their breasts removed.

    A 2014 study in the U.K. shows that more women have genetic testing for breast cancer risk since Angelina Jolie went public with her test results.

    Angelina Jolie didn’t have to share her very personal struggle with her breast surgery, but in doing so she made women all around the world even more aware of some of the options available to them.

    Did your understanding of genetic testing and breast cancer surgery increase following Angelina Jolie’s testing and surgery?

  • Genetic Testing Guidelines Issued For Muscular Dystrophy

    Genetic Testing Guidelines Issued For Muscular Dystrophy

    Muscular Dystrophy (MD) is well-known as a disease that progressively weakens muscles, leading to muscle spasms, difficulty walking, and eventually difficulty breathing. What many people don’t know is that MD is actually a group of diseases, each of which can have different effects on the human body. Doctors are still discovering and classifying new forms of MD.

    This week the American Academy of Neurology (AAN) and the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) issued guidelines meant to differentiate between MD disease types in preparation for genetic testing. The guidelines, published in this week’s Neurology, use symptoms, physical exams, lab tests, family history, and ethnicity to determine which genetic tests doctors should perform.

    According to the guidelines’ lead author, Dr. Pushpa Narayanaswami, MD can often be difficult to diagnose. The guidelines should help doctors determine MD subtypes, leading to better treatments and avoiding unnecessary tests.

    “Looking at a range of clinical signs and symptoms – such as which muscles are weak and if there is muscle wasting or enlargement, winging out of the shoulder blades, early signs of contracted limbs, rigidity of the neck or back, or heart or lung involvement – can help doctors determine which genetic test to order,” said Dr. Anthony Amato, senior author of the guidelines and a neurologist at Brigham and Women’s Hospital. “This in turn can shorten the time to diagnosis and start of treatment while helping avoid more extensive and expensive testing.”

    According to the guidelines MD treatment should take place at facilities that specialize in the disease. No cure for MD yet exists, so the guidelines also suggest that MD patients inform their doctors of treatable symptoms such as shortness of breath or irregular heartbeat and that they seek out safe exercises.

    “Before this publication, there were no care guidelines that covered both limb-girdle muscular dystrophy and distal MD and were based on the evidence,” said Julie Bolen, team lead on the guidelines and a member of the National Center on Birth Defects and Developmental Disabilities at the U.S. Centers for Disease Control and Prevention (CDC). “We hope that this guideline will fill that gap for both the people who live with these rare disorders and the health care professionals who treat them.”

  • Genetic Testing: More Accessible in Obamacare

    Genetic testing is a new and important field of medicine, making early detection and prevention of breast and ovarian cancer even more possible. Genetic testing can determine if a woman has the BRCA 1 or BRCA 2 mutated genes, which put women at a much higher risk for breast and ovarian cancer. This year, 234,580 women will be diagnosed with breast cancer. 40,030 will die from it.

    As it it, most insurance policies do not cover preventive genetic testing or even mammograms, and will fight hard not to. Women who earn at or below 200% of the poverty level could qualify for Medicaid, but whether they can get testing is sporadic. Genetic testing sometimes changes a course of action, says Pam Anderson, cancer services coordinator for the Georgia Department of Community Health.

    If a woman finds out she carries the mutated genes that put her at a higher risk for ovarian or breast cancer, she can be more aware of the situation she faces and it can make her doctor more aware of her risks. Testing can help them, together, to form a plan for prevention and early detection. She can also pass down that knowledge to her daughters so that they can be ready to take preventive measures.

    “The issue that really we have is not so much the uninsured as the underinsured,” Anderson said. “There are still insurance companies out there that don’t pay for mammograms. There are people that have high deductibles and they have to meet their deductible first.”

    In the case of the BRCA mutations, it is the increased risk of ovarian cancer that becomes critical, Anderson said. Ovarian cancer is apparently much more difficult to detect than breast cancer.

    “That’s the scariest part to me,” she said.

    Now, under the Affordable Care Act that took effect yesterday, preventive genetic testing will be more widely available to women, according to The Augusta Chronicle. Policies sold in the Affordable Care marketplace, or “exchange”, must cover preventive services like this with no co-pay. This is good news at the start of Breast Cancer Awareness month!

    Policies also have to cover mammograms for women over 40, as well as chemoprevention for women at a higher risk of breast cancer. Hopefully these new policies will help save lives and reduce the number of deaths for next year.

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