Rare Disease Day 2021

February 28 is Rare Disease Day! This is an annual observance dedicated to raising awareness of rare diseases and their impact on patients’ lives. The very first Rare Disease Day was celebrated on a “rare” date–the 29th of February. Since its inception in 2008, Rare Disease Day has become a global phenomenon and has been celebrated around the world on the last day of February.

While rare diseases are individually rare, collectively, they impact a significant portion of the population worldwide. There are over 30 million Americans (~10%) and 350 million people worldwide living with one of the 7,000 documented rare diseases. It takes 3 to 4 misdiagnoses, 8 physicians, and 6-7 years on average for most patients with rare diseases to get an accurate diagnosis. Additionally, over 80% of rare diseases are genetic in origin and 70% of rare diseases start in childhood. Carrier screening can help identify a significant proportion of individuals at risk for developing one of these potentially devastating diseases and empowering them with the knowledge needed to seek timely treatments while avoiding diagnostic delays.

It is important to recognize that while patients living with rare diseases may have a shared journey, their experiences are also individual and unique. The theme of this year’s Rare Disease Day, “Rare is many. Rare is strong. Rare is proud,” focuses on reframing the word “rare” while highlighting the unique experiences of each individual living with a rare disease.

To learn more and find out how you can get involved, please go to Rare Disease Day’s website..

Tele-Genetic Counselors: Who are they and what do they do?

The Growth of Telemedicine
Tele-genetic counselors are board-certified, licensed healthcare professionals with graduate education and training in both genetics and counseling. Tele-genetic counselors talk to patients about results, coordinate testing with clinics and physicians, write and edit test reports, and more to enhance patient care. They may cover different realms of genetics, including but not limited to cancer, prenatal, and fertility. In sessions with patients, they discuss what results mean and what to do with them, taking into account family histories of disease and guiding next steps for reproductive and other healthcare management.

Telemedicine is revolutionizing how patients receive healthcare. As new technologies allow for HIPAA-compliant communication between providers and patients, more Americans are accessing services online than ever before. In fact, the USDA announced that it is investing $42.5 million in distance learning and telemedicine projects in 37 states and two U.S. territories. It is estimated these investments will benefit 5.4 million rural residents. Studies (like this one and this one) show patients had a high level of satisfaction with both in person and telephone-based genetic counseling.

Tele-Genetic Counseling at NxGen MDx
At NxGen MDx, telemedicine is not only a familiar concept but also foundational to the care we provide patients. NxGen MDx’s team of board-certified genetic counselors operates completely via telemedicine, counseling patients, communicating with healthcare providers, coordinating testing and more—without ever stepping foot in a doctor’s office.

Patients from clinics all over the country speak with NxGen MDx’s tele-genetic counselors. Working alongside physicians, tele-genetic counselors explain genetic test results without patients needing to make another trip back to the doctor’s office.

Sources
Drees, J. (2019, November 21). USDA to invest $42.5M in telemedicine initiatives. In Becker’s Hospital Review. Retrieved from https://www.beckershospitalreview.com/telehealth/usda-to-invest-42-5m-in-telemedicine-initiatives.html

Peshkin, B. N., Kelly, S., Nusbaum, R. H., Similuk, M., DeMarco, T. A., Hooker, G. W., … Schwartz, M. D. (2015, October 12). Patient Perceptions of Telephone vs. In‐Person BRCA1/BRCA2 Genetic Counseling. Journal of Genetic Counseling, 25(3), 472-482. doi:10.1007/s10897-015-9897-6

Biesecker, B. B., Lewis, K. L., Umstead, K. L., Johnston, J. J., Turbitt, E., Fishler, K. P., … Biesecker, L. G. (2018, March). Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial. JAMA Internal Medicine, 178(3), 338-346. doi:10.1001/jamainternmed.2017.8049

How Genetic Testing Can Help You Prevent Breast Cancer

If you could lower your risk of breast cancer, would you?

1 in 8 women will be diagnosed with breast cancer in their lifetime. Taking the steps to be the 7 in 8 who are cancer-free can involve more than just your yearly mammogram.


Genes that can impact your risk for breast cancer

ATM
BRIP1
MSH6
PTEN
BARD1
CDH1
NBN
RAD51C
BRCA1
CHEK2
PALB2
STK11
BRCA2
MRE11A
PMS2
TP53



Hereditary cancer testing looks for variants in your genes that increase the risk for breast cancer, among many other types of cancer as well. Many people know about BRCA1 and BRCA2, the two most common genes that affect your breast cancer risk, but fewer know that there are several other genes that can also impact your risk. In fact, if you only test for BRCA1 and BRCA2, over 50% of the genes that could impact your risk are being missed.

You might think that discovering you have an increased risk for cancer is scary but knowing about your variant puts the power into your hands and into the hands of your doctor. If you have a pathogenic variant, your doctor can curate a risk management plan specifically to you. This management plan could include more frequent mammograms or breast MRIs, clinical breast exams, and the options of risk-reducing surgery or medications.

Not only is hereditary cancer screening valuable to your own health, it can also be valuable to your family members. If you have a variant that increases your risk for any kind of cancer, it is possible that your family members could also share that variant and should consider being tested.

Research published in Surgical Oncology in 2012 estimates that 80 to 90 percent of men and women who carry BRCA variants have not been tested. That means roughly 800,000-plus people in the United States have no idea that they carry a very high risk of cancer that could be prevented or caught early if they took proactive measures.

If you have a family history of breast cancer that meets any of the following criteria, it is possible that your family could carry a risk-increasing variant and you may want to consider hereditary cancer screening for breast cancer:

  • A relative who had cancer before the age of 50
  • Multiple relatives with breast, ovarian, pancreatic, or prostate cancer
  • A relative with male breast cancer
  • A relative with triple negative breast cancer
  • A family member with a known variant in BRCA1 or BRCA2

Sources
Drohan, B., Roche, C. A., Cusack, J. C., & Hughes, K. S. (2012, June). Hereditary breast and ovarian cancer and other hereditary syndromes: Using technology to identify carriers. Annals of Surgical Oncology, 19(6), 1732-1737.

Rare Disease Day 2019

Today, February 28, is Rare Disease Day. Rare Disease Day was established in 2008 as a way to raise awareness of rare diseases and bring focus to research and treatments.

Individually, each of the approximately 7,000 rare diseases have an incidence of fewer than 200,000 people in the United States affected at any given time. However, when considered altogether, rare diseases affect as many as 1 in 10 Americans and over 350 million people worldwide.

These rare conditions have a wide variety of symptoms, severity, and treatments. Some are life threatening while others can be managed. What most have in common, however, are a genetic cause. About 80% of rare diseases have a genetic origin.

For 2019, the theme for Rare Disease Day is “Bridging Health and Social Care,” which focuses on bridging the coordination gaps among medical, social, and supportive services for those afflicted with rare diseases.

Knowing if you are a carrier for a rare disease is powerful information to have, especially if you are thinking about having children. To learn more about screening to determine whether or not you could be a carrier, visit our website at https://nxgenmdx.com/genetic-screening.

To learn more about Rare Disease Day, visit www.rarediseaseday.org or follow Rare Disease Day on Facebook or Twitter.

National DNA Day 2018

Happy National DNA Day!

Today, April 25, 2018, marks the 15th anniversary of the Human Genome Project’s completion in 2003 and the discovery of the DNA’s double helix in 1953! It is a day meant to educate and celebrate advances and research in the field of genetics. To celebrate, NxGen MDx put together a list of weird but true facts about DNA.

1. Your DNA could stretch from the earth to the sun and back ~600 times.
If unwound and linked together, the strands of DNA in each of your cells would be 6 feet long. With 100 trillion cells in your body, that means if all your DNA were put end-to-end, it would stretch over 110 billion miles. That’s hundreds of round trips to the sun!

2. We’re all 99.9 percent alike.
Of the 3 billion base pairs in the human genome, only 0.1% are unique to us. While that 0.1% is still what makes us unique, it means we’re all more similar than we are different.

3. Genes make up only about 3 percent of your DNA.
Genes are short segments of DNA, but not all DNA is genes. All told, genes are only about 1-3% of your DNA. The rest of your DNA controls the activity of your genes.

4. The human genome contains 3 billion base pairs of DNA.
If you could type 60 words per minute, eight hours a day, it would take approximately 50 years to type the human genome.

5. Human DNA is 98% identical to the DNA of chimpanzees.
What’s shocking is that human DNA is 50% identical to the DNA of bananas! You read it correctly! We said BANANAS!

6. Your DNA could tell things about you that you never knew.
Genetics has the power to tell you things you never dreamed of knowing, from just the DNA in your saliva or blood.

With NxGen MDx carrier screening, for example, you can find what variants, or changes in your DNA, you inherited from your parents that could make you a carrier of a genetic condition. Most people who are carriers for genetic conditions have no family history or personal medical history that would indicate they are a carrier. With NxGen MDx carrier screening, you can learn if you are a carrier and are at increased risk to have a child with a genetic condition– all from your DNA!

Other DNA Day activities
● The National Human Genome Research Institute (NHGRI) is hosting a ‘Ask Me Anything (AMA)’ on Reddit this year on r/science. This AMA will run each weekday from 1 to 3pm Eastern until 4/27. Get more information about the AMA series here!
● Understand how pop culture and genetics merge in NHGRI’s guest speaker‘s talk Harry Potter and the Genetics of Wizarding
● Learn about careers in genetics
● Get online with educational videos, articles, and experiments
● Check out past DNA Day events

Whatever you decide to do, just remember… DNA made this day possible!

The Best Gift

As we approach the peak of the holiday season, last minute shopping and gift giving are on many people’s minds. People are rushing out at the last minute to pick up the latest toy or electronic device (or everyone’s favorite thing to receive—socks!). Whether your friends and loved ones are easy or hard to buy for, there is one thing that everyone would be thrilled to receive: a lifetime of good health.

You can’t buy such a gift outright, or at least I’ve never seen it on Amazon. There are many factors that go into someone’s health and well-being. Some of these factors you can control with diet, exercise, and medication. Others are harder to predict or plan for, such as accidents or disease. While you can’t purchase this gift for yourself or for another person, there are smaller, subtler gifts that—while not guaranteeing a healthy life—can have a powerful and positive impact.

If the best gift you can give someone is a healthy life, it makes sense that you would want to give it to your children. Evolving perspectives in family planning encourage preparing for a child before conception and include improving your own health, making sure your finances are in order, and outlining the responsibilities you and your partner will have once your child is born. These are all things—small but powerful gifts to your future child—that couples can use to plan for the future.

Screening for genetic conditions has also become an important part of preconception planning. With the recent reduction in the cost of sequencing the human genome, genetic tests have become widely available to determine if you are a carrier for a genetic condition. If you could determine your risk of passing a genetic condition on to your children, wouldn’t you try and plan to minimize that risk as much as you could or prepare for the possible outcome?

The purpose of genetic screening isn’t to scare you into not having a child, but rather to inform you about what your options are. With a screening report in hand, you can plan whether or not you should pursue natural conception, in-vitro fertilization (IVF), or another option. It also gives you the chance to build a support network of family, friends, and health care professionals to help you manage any risks .

This holiday season, if you are considering starting or adding to your family, consider giving your future child the best gift that you can by being prepared for their arrival. It may seem like this gift is small, but the impact could last a lifetime.

To download a preconception checklist to help with planning for a pregnancy, please click the link below.

Family Health History Day – Nov. 23, 2017

With Thanksgiving approaching, there’s no better time to think about your family health history. In addition to Thanksgiving, November 23rd is also Family Health History Day. The easiest way to get information about your family history is to ask your relatives, and during the holidays, most of your family is conveniently gathered in the same place.

What is family health history?
Family health history isn’t just about genes or diseases that run in your family. Families often share behaviors – like exercise and eating habits – and environmental similarities. Each of these factors is a part of your family health history, however, poor habits can be changed to decrease your risk in some cases.

Why is it important to know your family history?
You might be surprised how much of your family’s health history can impact your own health and medical decisions.

According to the Centers for Disease Control and Prevention (CDC), most people have a family history of at least one chronic disease – cancer, heart disease, diabetes, etc. – and as a result, you may be more likely to develop that specific disease yourself.

Obtaining as much information as you can will help you prevent or prepare for conditions such as
– Heart disease
– High blood pressure
– Stroke
– Certain cancers
– Diabetes
– Genetic conditions like cystic fibrosis and sickle cell disease

Your family health history can also be important when planning a pregnancy, especially if your family history includes a birth defect, developmental disability, newborn screening disorder, or genetic condition. Knowing your history prior to pregnancy gives you adequate time to address any concerns and plan for a healthy baby.

Ideally, a complete family medical history will include three generations of relatives – children, siblings, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.

My family has a history of heart disease, cancer, or diabetes. Now what?
It’s important to inform your doctor of your family health history, even if it is only partially complete, and to regularly update your doctor of any changes.

Adopting a healthier lifestyle can help reduce your risk of many of the diseases that may run in your family. Additionally, frequent screening for diabetes and certain types of cancers can help detect early signs of disease.

The Surgeon General, in partnership with the U.S. Department of Health and Human Services, provides tips and tools when beginning to gather your family health history. For more information, see the links below.

Additional Links
Family Health Portrait Tool
The Surgeon General’s Family Health History Initiative – U.S. Department of Health & Human Services

Sources
Why is it important to know my family medical history? – Genetics Home Reference
Family Health History: The Basics – Centers for Disease Control and Prevention
Family Health History and Planning for Pregnancy – Centers for Disease Control and Prevention

Genetic Counselor Awareness Day – Nov. 9, 2017

Happy Genetic Counselor Awareness Day! Your doctor may refer you to speak with a genetic counselor, but perhaps you’ve never heard of one before. What is a genetic counselor and why does your doctor want you to speak to one?

As defined by the National Society of Genetic Counselors, genetic counseling is “…a process to evaluate and understand a family’s risk of an inherited medical condition. A genetic counselor is a healthcare professional with specialized training in medical genetics and counseling.”

Genetic counselors work with you to determine risks regarding genetic disease and how they may affect you and your family, allowing you to make informed decisions about your health. You may be referred to speak with a genetic counselor based on the results of your genetic screening, a prenatal visit, or any risk factors related to cancer, heart disease, neurological disease, or other genetically linked conditions. They may ask many detailed questions about your family medical history in order to assess if there are any genetic risks, and then go through any appropriate testing options you may want to consider. A genetic counselor is also able to carefully and thoroughly explain the results of any genetic testing you have had.

Here at NxGen MDx, we offer a phone-based genetic counseling program, where you can speak to a board-certified genetic counselor regarding your NxGen MDx test results. We are so excited to take part in the first-annual Genetic Counselor Awareness Day to spread the word about this integral and growing field in genetics. The National Society of Genetic Counselors put together a wonderful video showcasing genetic counselors and what they do! Check it out below!

5 Reasons Why Preconception Carrier Screening Is Important

by NxGen MDx

There are many things to take into consideration when planning to start a family. As technology advances, genetic testing prior to pregnancy is becoming much more common. One example of genetic testing is carrier screening, a tool that can help determine if you or your partner is a carrier of an inherited genetic condition that you could pass on to your child. You can be a carrier without having the condition itself; in fact, each of us carries a genetically inherited condition, any one of which we can pass on. Here are some reasons why this type of testing is important prior to a pregnancy.

Carrier screening gives insight into your pregnancy
Knowing your carrier status allows you to plan for an increased genetic risk in pregnancy and helps guide pregnancy decisions down the road. It is a vital part of family planning which anyone can utilize.

It gives you family planning options
If you are a carrier, you have options, such as partner testing, pre-implantation genetic diagnosis (PGD) to determine if an embryo is affected with the condition(s), taking additional care during pregnancy, and education regarding the diagnosis and treatments available after birth

It detects unknown genetic conditions
80% of individuals that are born with a genetic condition have no known family history of the condition (Genetic Disease Foundation, 2010). You might say “Genetic disorders don’t run in my family,” but the fact is that many carriers of genetic disorders don’t show any symptoms and go undetected.

Screening reduces your anxiety about pregnancy
If you have a family history of a condition, carrier screening prior to pregnancy can provide the assurance that you are not a carrier of the condition or, if you are a carrier, that you have the resources to put a plan into place.

It helps your relatives in their family planning
Discovering your carrier status can benefit the family planning of your relatives, too. A carrier is likely to have family members who carry the same condition. Full-siblings have a 50% chance of carrying the same condition and half-siblings have a 25% chance.

Sources
1. The Genetic Disease Foundation (GDF) encourages Americans to know their genes at knowyourgenes.org in observance of world rare disease day (2010, February 28). In PR Newswire.

Sickle Cell in Football: How Genetics Can Impact Performance on the Field

by NxGen MDx

Football season is here! Around the country people are planning tailgates, digging their lucky jerseys out of the closet, and drafting their fantasy football teams. Your favorite team relies on keeping their players uninjured and healthy in order to have the best shot at the playoffs and that coveted Super Bowl ring.

However, aside from the usual torn ACLs or concussions, some players face more complex issues that could threaten their health, as well as their team’s playoff prospects. For a few high-profile players, a relatively common genetic condition known as sickle cell trait can have a big impact on their performance on the field.

Sickle cell trait occurs when one of a pair of genes that governs hemoglobin and red blood cell production has a variant on it. Although not nearly as severe as sickle cell anemia (where both pairs of genes have a variant), sickle cell trait makes some people more susceptible to heat stroke and muscle breakdown when performing intense physical activity. The risk increases when playing at high elevations – due to lower oxygen content in the air – such as Denver’s Mile High Stadium.

Well known players such as Tevin Coleman (RB, Atlanta Falcons), Ty Montgomery (RB, Green Bay Packers), former safety Ryan Clark, and former WR Terrell Owens have all been public about their sickle cell trait and have helped raise awareness and reduce stigma surrounding this important health issue. Although sickle cell gene variants are found among all ethnicities (and regardless of any family history) they are more prevalent among individuals with African-American and Hispanic ancestry.

Despite these increased risks, most people with sickle cell trait perform athletically with no adverse effects. Actual health crises from sickle cell trait are rare and can be mostly prevented by avoiding dehydration and overheating during training and gameplay, taking regular breaks, and having staff on hand to monitor an individual’s condition.

If you are interested in learning more about sickle cell trait and related diseases, visit these pages:
NxGen MDx – Sickle Cell Anemia
Centers for Disease Control and Prevention – What You Should Know About Sickle Cell Trait
Sickle Cell Disease Association of America – About SCT & SCD