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..

NxGen MDx announces the immediate launch and availability of their COVID-19 Test

GRAND RAPIDS, Mich., March 23, 2020 — To combat the lack of test availability, NxGen MDx announced today the immediate launch and availability of their COVID-19 Test.

The rise in U.S. cases of COVID-19, a highly contagious and sometimes fatal respiratory illness, has concerned health officials and spurred calls from lawmakers for action to expand testing capacity to slow its spread.

“Like the CDC-built kits, ours will be conducted on QuantStudio qPCR instrumentation and will be able to process 2000 samples per day with tests being resulted in 24-48 hours,” said Dr. Jacqueline Peacock, Director of Laboratory
Operations.

The test will help meet a major U.S. shortfall of diagnostic capabilities that has severely limited the nation’s ability to track the spread of the outbreak.

“COVID-19 is a global challenge and we are committed to providing people on the frontlines of this pandemic with critical tests to help ensure proper care,” said Alan Mack, CEO of NxGen MDx.

To ensure providers can give their patients the most comprehensive diagnostic results, NxGen MDx is also working to validate a 40+ respiratory pathogen panel to identify the cause of respiratory symptoms in a single test. This test is slated for launch in July 2020. 

About NxGen MDx
NxGen MDx LLC is a leading women’s health company delivering highly accurate and
precise genetic testing. NxGen MDx’s history of whole-gene sequencing combined with
advanced technology allows us to provide accessible, high-quality testing options to
families as they plan for the future. NxGen MDx employs state-of-the-art technology,
including rapid molecular diagnostics for infectious disease and genetic screening
technology that examines the entire gene rather than parts of the gene, giving women and
families a comprehensive assessment of their health. NxGen MDx is based in Grand Rapids,
Michigan. To learn more, visit the company’s website at www.nxgenmdx.com.

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

NxGen MDx announces Urogenital Pathogens Tests with a turnaround of 24 hours

GRAND RAPIDS, Mich., Nov. 6, 2019 — NxGen MDx announced the launch of their Urogenital Pathogens Tests, a group of women’s health tests. The Urogenital Pathogens Tests includes tests for vaginosis, urinary tract infection, and group B streptococcus.

Each year, 10 million doctor visits can be attributed to reoccurring vaginal infections. Of these 10 million visits, 40% of women leave their initial office visit undiagnosed. Hospitalizations related to UTIs alone cost the U.S. hospital system $2.8 billion annually.

“There’s an industry need for faster, better UTI and vaginosis tests. These infections are increasingly resistant to antibiotics, so being able to provide results including antibiotic resistance is crucial to doctors providing their patients with effective prescriptions as soon as possible,” said Alan Mack, CEO of NxGen MDx.

All three tests in the Urogenital Pathogens Tests use real-time PCR technology to offer superior accuracy and a turnaround time of just 24 hours.

The NxGen MDx UTI Test screens for the 17 organisms responsible for 99% of community-acquired urinary tract infections with a sensitivity of >99%, as well as 9 classes of antibiotic resistance to inform treatment decisions.

The NxGen MDx Vaginosis Test screens for a total of 34 organisms involved in vaginosis. This comprehensive tool includes organisms that can cause aerobic vaginosis, bacterial vaginosis, viral infections, and vulvovaginal candidiasis. Assessment of normal vaginal flora, which can be displaced by pathogens, and testing for 9 classes of antibiotic resistance are also included in this panel to provide a complete, actionable result within 24 hours. Group B Strep is included in the NxGen Vaginosis Test and is available as a standalone test.

“As a women’s health company, it made sense for us to transition into offering these tests. Our established sales force allows for easy, quick integration of these tests across the country,” said Mack.

About NxGen MDx
NxGen MDx LLC is a leading women’s health company delivering comprehensive and precise genetic screening that detects genetic diseases or abnormalities to help families make informed decisions and support women’s health needs. NxGen MDx employs state-of-the-art technology, including rapid molecular diagnostics for infectious disease and genetic screening technology that examines the entire gene rather than parts of the gene, giving women and families a comprehensive assessment of their health. NxGen MDx is based in Grand Rapids, Michigan. To learn more, visit the company’s website at www.nxgenmdx.com.

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.

NxGen MDx implements hereditary cancer panel

GRAND RAPIDS, Mich., Oct. 25, 2018 — NxGen MDx announced the creation of the NxGen MDx Hereditary Cancer Panel, which will test for variants in 32 genes known to cause certain forms of hereditary cancer.

Of over 1 million women with a family history of breast/ovarian cancer that meet testing criteria, only 13.8% undergo genetic testing (1). The NxGen MDx Hereditary Cancer Panel was designed to provide an easily available and affordable test to meet patients’ needs. The test includes genes known to impact lifetime risk for breast, ovarian, colon, pancreatic, prostate, uterine, gastric, and melanoma cancers.

In addition to evaluation of the 32 genes for cancer risk variants, patients who order the NxGen MDx Hereditary Cancer Panel will receive a personalized breast cancer risk assessment. This risk assessment is performed even if they are negative for any variants in the 32 genes screened and is based on a combination of their test results, reported family history, and personal health history.

“The addition of an oncology panel is a natural fit for NxGen. We’ve always been best-in-class using whole-gene sequencing, so it just made sense to use our expertise to round out our women’s health focus,” said Alan Mack, CEO of NxGen MDx.

The Hereditary Cancer Panel, like all screening from NxGen MDx, comes combined with genetic counseling to help patients fully understand their results and what they may mean for the future.

1. Childers. C.P., Childers, K.K., Maggard-Gibbons, M., & Macinko, J. (2017, December 1), National estimates of genetic testing in women with a history of breast or ovarian cancer. Journal of Clinical Oncology. 35(34), 3800-3806.

About NxGen MDx
NxGen MDx LLC is a leading women’s health company delivering highly accurate and precise genetic screening that detects genetic diseases or abnormalities and helps families make informed decisions. Unlike other laboratories, NxGen MDx’s technology examines the entire gene rather than parts of the gene, giving families a comprehensive assessment of their true risk. NxGen MDx is based in Grand Rapids, Michigan. To learn more, visit the company’s website at www.nxgenmdx.com.

NxGen MDx implements AMI tagging to track samples, preventing lab errors

Grand Rapids, MI, July 9, 2018 – NxGen MDx announced the development and implementation of a new method of DNA tagging to track samples and prevent laboratory errors. Active molecular identification (AMI) tagging uses synthetic DNA to tag a patient’s sample at the beginning of the testing process.

“Laboratory errors occur in every medical lab across the world. NxGen MDx employs a robust physical tracking system to ensure specimen integrity throughout the testing process; however, it is important for all laboratories to acknowledge that no system is foolproof. AMI tagging provides the ultimate check of a laboratory’s specimen tracking system and ensures that patients receive the most accurate results possible,” said Jonathan Karnes, Vice President of Scientific Operations at NxGen MDx.

AMI tagging repeatedly identifies and connects the initial patient specimen to the final test results, limiting the possibility for human error and sample mix-ups. The synthetic DNA of the AMI tag accompanies the patient’s sample throughout the testing process. NxGen MDx carried out extensive validation studies to ensure that the unique DNA sequences in AMI tags do not affect testing.

About NxGen MDx
NxGen MDx LLC is a leading women’s health company delivering highly accurate and precise genetic screening that detects genetic diseases or abnormalities and helps families make informed decisions. Unlike other laboratories, NxGen MDx’s technology examines the entire gene rather than parts of the gene, giving families a comprehensive assessment of their true risk. NxGen MDx is based in Grand Rapids, Michigan. To learn more, visit the company’s website at www.nxgenmdx.com.

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.