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4 days ago · Genetic tests + coordinated care + research = hope for patients with a genetic neurological disease

 

Life with an inherited disease sometimes brings unexpected twists and turns. Five-year-old Gus Erickson has navigated the gyrations with the help of Mayo Clinic’s Neurofibromatosis Clinic. Neurofibromatosis (NF) is a genetic disorder that causes tumors to form on nerve tissue. Those tumors can develop anywhere in the nervous system, including the brain, spinal cord and on skin. Gus is one of some 3,000 neurofibromatosis patients from around the world treated at Mayo, which specializes in care for all three types of NF: NF1, NF2 and Schwannomatosis.

Dusica Babovic-Vuksanovic, M.D.

“Mayo Clinic offers a comprehensive, multidisciplinary approach to treating NF patients. We serve as the entry point to care. We have access to all needed specialties like ophthalmology, orthopedics, dermatology, neurology and psychology that can address complications of the disease,” says Dusica Babovic, M.D., of the Department of Clinical Genomics, who heads Mayo Clinic’s Neurofibromatosis Clinic.


Gus’ story

 

Gus Erickson, like many boys his age, has a passion for superheroes. Gus’ own superhero-like courage and strength provide the inspiration his family needed to endure his medical challenges. As a baby, Gus was diagnosed with NF1, the most common type of neurofibromatosis. NF1 can produce tumors, brown spots and freckling, even in areas not exposed to the sun. When he was three, Gus started growing fast and not gaining weight. Magnetic resonance imaging revealed a racquetball-sized tumor on the pituitary gland in his brain – a complication of this disease. Six days later, Gregg and Becky Erickson handed their little boy over to Mayo’s neurosurgery team. His mom and dad had great trust and hope in Mayo’s surgeon but, like any parents would be, they were terrified.

“It was the hardest thing we ever did. It was the longest day we’ve ever lived. We didn’t know what kind of brain damage Gus might be left with or if we’d even get our baby back at all. And we steeled ourselves for the worst,” says Becky Erickson, Gus’ mother.

Gus Erickson

 

Gus’ neurosurgeon had warned Gus’ parents that he may be stunned for a few days, not recognizing them or having the ability to interact in a normal way. Anxiety gave way to relief in the recovery room, though, when Gus’ mom held a cup of water to his mouth and Gus said, determinedly, “I hold it.”

His journey to wellness faced another hurdle. Just days after his surgery, his parents noticed a buildup of fluid that was causing a swelling in his head. This required another risky procedure: a spinal tap to drain the fluid.  If that didn’t work, Gus would require another surgery to place a permanent shunt in his brain.

“There was a 50/50 chance the spinal tap would work,” said Gregg Erickson, Gus’ dad. “It was performed two days after we brought Gus home from the hospital. We waited another two days, and when we woke up that Sunday, the swelling had gone away. It was June 21st, 2015 – the best Fathers’ Day I’ve ever had.”

 

 

 

Mayo Clinic’s role

Mayo’s Neurofibromatosis Clinic is also the medical base for overseeing NF type 2, which impacts one in up to 40,000 individuals whose disorder may produce head and spinal tumors. It also offers specialized multidisciplinary care for the third NF type, which is known as Schwannomatosis, the adult onset version of NF.

The Neurofibromatosis Clinic offers the following services to address unmet patient needs:

  • Establishing diagnosis based on clinical signs and comprehensive genetic testing
  • Coordinating long-term care
  • Providing genetic counseling and screening for family members at risk
  • Referring cases with unexplained conditions to research to find medical answers and treatment

The Neurofibromatosis Network awarded Gus the 2017 NF Champion award for all his courage and optimism in coping with NF. His father, Gregg, founded the North Central Chapter of the NF Network in October 2016, representing Minnesota and Wisconsin, in efforts to lobby for federal research funding to advance treatment of NF.

 

This article originally appeared on the Center for Individualized Medicine blog.

Thu, Jan 4 6:00am · Gerstner Awardees explore individualized treatments for obesity, rare form of leukemia

By Sharon Rosen

Precision medicine research has shown that one size does not fit all when it comes to medical care. Early career investigators can bring new ideas and perspectives to the search for treatments tailored to a patient’s unique needs. These are the goals of Andres Acosta, M.D., Ph.D., and Mrinal Patnaik, M.B.B.S. – this year’s recipients of the Gerstner Family Career Development Awards in Individualized Medicine.

Each year, Mayo Clinic Center for Individualized Medicine selects Gerstner Award recipients to promote a specialized workforce capable of moving individualized medicine from discovery into patient care. This initiative provides important seed money for early-stage investigators to conduct research to predict, prevent, treat and even cure disease through individualized therapies.

An individualized approach to fighting obesity  

Andres Acosta, M.D., Ph.D.

Dr. Acosta has identified different types of obesity, based on a person’s gut-brain function, genetics and lifestyle. The Gerstner Award will allow Dr. Acosta to advance his research to:

  • Identify factors that can predict how patients within the different types of obesity respond to weight loss therapies.
  • Uncover genetic differences among obese patients that can be used to develop targeted treatments.

“Thanks to the Gerstner Award, we hope to move from a one-treatment-fits-all approach to the right treatment for each patient. We want to develop individualized strategies that lead to successful weight loss and long term weight control, allowing patients to live a healthier life. ” says Dr. Acosta.

Searching for treatment for a rare, aggressive blood cancer  

Mrinal Patnaik, M.B.B.S.

Chronic myelomonocytic leukemia is a rare, aggressive blood cancer that affects patients who are in their 70s. With no effective treatment to date, most patients die within two years of being diagnosed.

With the Gerstner Award, Dr. Patnaik aims to:

  • Define how the NRAS gene, a gene known to affect the disease, actually causes this fatal condition.
  • Use patient tumor samples grown in both mouse models and petri dishes to evaluate the effectiveness of different therapies.

“While this rare, aggressive blood cancer only affects four out of 100,000 people, we see many of these patients at Mayo Clinic. With the support provided by the Gerstner Award, we will be able to address the urgent need to develop an effective treatment for this deadly disease,” says Dr. Patnaik.

Learn more about previous Gerstner Award recipients.

This article originally appeared on the Center for individual Medicine blog.

Dec 28, 2017 · Genetic testing for earlier diagnosis and treatment of rheumatoid arthritis

By Sharon Rosen

If you are one of the estimated 1.5 million Americans who suffer from rheumatoid arthritis, you know about the painful, swollen and stiff joints that are common symptoms of this chronic inflammatory disorder. Mayo Clinic has been a leader in discovering biomarkers – indicators of health and disease – that link rheumatoid arthritis to the bacteria in your gut. The July 2017 edition of Mayo Clinic Proceedings highlights research into an individualized approach to treating rheumatoid arthritis.

Carla Wijbrandts, M.D., Ph.D., University of Amsterdam, and Paul-Peter Tak, M.D.,  Ph.D., Cambridge University, authors of the paper Prediction of Response to Targeted Treatment in Rheumatoid Arthritis, provide an overview of research underway to identify biological and genetic variations that can help predict which patients will respond well to each available therapy, especially newly developed biological agents. The authors also provide suggested clinical guidelines for using genetic testing to guide treatment, a framework they note will need to be modified as clinical trials currently underway are completed.

According to Eric Matteson, M.D., professor of Medicine and consultant in the Department of Rheumatology at Mayo Clinic’s campus in Rochester, Minnesota, a personalized approach is improving care for many patients.

Dr. Eric Matteson

“This research confirms there is no one single factor that can predict how beneficial a drug may be, or if a person will have certain side effects. The studies validate that genetics, gender, age, body weight and blood tests can and do help guide decisions about which therapies to use for treating rheumatoid arthritis. Taking these factors into account, patients and physicians can better focus in on particular risk factors for severe disease as well as likelihood that a patient will have a good response to therapy. This personalized approach and the predictive tools are important for guiding treatment for the safest and most effective therapies,” says Dr. Matteson.

These findings are important because RA is a painful disease that affects quality of life. The disease occurs when your immune system attacks the tissues in your body, affecting your joints and other parts of your body, such as your eyes, skin, lungs, heart and blood vessels. While there is no cure, new advances in treatments can reduce symptoms and help prevent the disease from progressing. So the challenge facing physicians is to find the right treatment for each patient as early as possible to prevent further disability and improve patients’ quality of life.

Mayo Clinic Proceedings Symposium on Precision Medicine 

This paper is the fifth in Mayo Clinic Proceedings Symposium on Precision Medicine, a series of articles that cover a wide range of topics in personalized medicine. Watch for upcoming articles in the symposium, which will focus on how personalized medicine and genomics are impacting patient care. Learn more about the series.

Learn more about precision medicine research for rheumatoid arthritis

This article originally appeared in the Center for Individualized Medicine blog.

Dec 19, 2017 · Searching for genetic clues and treatment for unexplained chronic liver disease

By Sharon Rosen

Douglas Simonetto, M.D.

“Chronic liver disease affects 3.9 million people each year in the United States. As many as 30 percent of patients suffer from unexplained chronic liver disease where there is no cure,” says Douglas Simonetto, M.D.

That’s why Dr. Simonetto and his colleagues in Mayo Clinic’s Division of Gastroenterology and Hepatology are collaborating with researchers in the Mayo Clinic Center for Individualized Medicine to find genetic mutations that may be linked to these unexplained conditions and uncover new targets for individualized therapies.

“For some young patients, we are unable to identify the underlying cause of their chronic liver disease using traditional clinical tests. With a simple blood test, we can obtain a blood sample and perform whole genome sequencing to identify any genetic mutations that could be linked to a patient’s chronic liver condition. Our hope is to gain a better understanding of these conditions and develop targeted therapies to manage symptoms, stop disease progression and restore liver function for these patients,” says Dr. Simonetto.

As the largest solid organ in your body, your liver performs many necessary functions, including removing harmful substances, filtering your blood and making vital nutrients. Patients with chronic liver diseases have reduced liver function that can progress to late stage scarring of the liver, known as cirrhosis, and liver failure.

Research collaboration – a multidisciplinary team of experts

As Dr. Simonetto explains, this research effort brings together a multidisciplinary team of experts to address a critical need for new therapeutic targets for patients with unexplained chronic liver diseases. Due to the lack of a specific cause for these conditions, current treatments focus only on managing symptoms, or ultimately if liver function continues to deteriorate, liver transplantation.

“We’re combining the clinical expertise of hepatologists and gastroenterologists who are leaders in treating liver disease, with the expertise of geneticists, genetic counselors, and genomics experts from the Center for Individualized Medicine who are leaders in analyzing and interpreting complex genetic test results, to help find answers for our patients,” says Dr. Simonetto.

Finding answers for many different conditions

There are many different types of unexplained chronic liver diseases which can scar liver tissue and impair the liver’s ability to function normally or that can impair the blood flow through the liver and increase the risk of gastrointestinal bleeding. Dr. Simonetto and his colleagues are working to identify potential underlying genetic causes for chronic liver conditions in young patients, which cannot otherwise be explained by routine available tests. These conditions include:

  • Unexplained fat deposits in the liver (hepatic steatosis/steatohepatitis)
  • Unexplained scarring of the liver (cryptogenic cirrhosis)
  • Unexplained impairment of blood flow through the liver (idiopathic or noncirrhotic portal hypertension)
  • Unexplained abnormal iron deposits in the liver (non-HFE iron overload)
  • Unexplained jaundice (cholestatic liver disease)

The research team is focusing on these conditions because they are the most likely to involve an underlying genetic cause that leads to the disease.

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This article originally appeared on the Center for Individualized Medicine blog.

Dec 7, 2017 · Liquid biopsies: detecting and treating cancer sooner

By Sharon Rosen

What if a blood test could discover cancer before a tumor first appears or before the first signs of cancer recurrence are seen by a radiology study? In fact, these types of blood tests, often called liquid biopsies, are already changing clinical care for patients with cancer.

Researchers and physicians in Mayo Clinic Center for Individualized Medicine, Department of Laboratory Medicine and Pathology, Division of Medical Oncology and Mayo Clinic Cancer Center are collaborating and developing blood tests that detect tumor related material in the blood and may someday be used in place of a biopsy or imaging test to detect and monitor cancer growth.

These blood tests may offer a better view of cancer activity, according to Minetta Liu, M.D., an oncologist and research chair, Mayo Clinic Division of Medical Oncology.

Minetta Liu, M.D.

“Cancers are not uniform in their molecular characteristics. Key genetic mutations may differ between tumors in the same patient, or even between different samples of the same tumor mass. By analyzing cells or DNA that a cancer tumor has shed into the blood stream, we may be able to detect the first signs of cancer or cancer recurrence sooner and offer treatment earlier when it is most effective,” says Dr. Liu.

Improving cancer care now

Many of these blood tests are already making a difference for patients with advanced cancer where cancer has spread to many parts of the body.

“Our goal is to provide novel blood tests that will provide a faster, less expensive and potentially more accurate picture of cancer activity, allowing us to be proactive and offer individualized cancer screening and targeted treatment for our patients,” says Dr. Liu.

She outlines two types of blood tests that are providing important information to guide treatment decisions for these patients.

Cell-free DNA tests

Researchers have discovered that DNA from cancer tumors is shed into the bloodstream. Using specialized laboratory equipment, cell-free DNA tests are able to separate this tumor-related DNA from the normal DNA within a patient’s blood sample. Genomic analysis is then performed to look for anywhere from one to potentially thousands of cancer specific mutations and identify potential targets for treatment.

A new cell-free DNA test developed at Mayo is guiding treatment for patients with many types of cancer, without the need for a tumor biopsy.

Mayo Clinic researchers are also developing multiple gene panel based tests to detect a variety of genetic mutations associated with lung, colorectal and breast cancers.

Circulating tumor cell tests

With circulating tumor cell tests, specialized equipment is used to capture rare cancer cells circulating in the blood. These cells are then processed for analysis.

“At this time, there is only one FDA-approved circulating tumor cell test available. We use this test for circulating tumor cell enumeration to monitor cancer growth and predict outcomes for patients with advanced breast, colorectal and prostate cancer. Our research is focused on isolating circulating tumor cells with different platforms in order to optimize their isolation and molecular characterization. For example, we can use the same tests on the DNA from circulating tumor cells that we have developed for cell-free DNA. By improving how we isolate and analyze these cancer cells, we can understand the molecular processes that cause cancer to develop and grow,” says Dr. Liu.

Advantages – patient-friendly, lower cost cancer screening for more patients

Mayo Clinic has a robust research program to bring forward accurate, reliable blood tests into clinical practice along with guidelines on how to use these tests to enhance diagnosis and treatment for many types of cancer.

According to Dr. Liu, these blood tests offer many advantages over current biopsy and testing methods:

  • Less invasive test with fewer risks
  • Lower cost and faster turnaround time for results
  • More easily identify patients who need more extensive treatment and screening

In addition, Dr. Liu and her team hope that these new tests will offer new cancer treatment options to more patients.

“Patients who live in smaller or rural communities may not have access to a facility that offers sophisticated cancer screening or has the capability for image-guided core needle tumor biopsies. However, most patients have access to a facility that can draw and ship blood samples to a central laboratory for analysis. Liquid biopsies could therefore expand cancer screening and improve cancer treatment outcomes for patients, regardless of their access to a specialized cancer center,” says Dr. Liu.

Learn more about liquid biopsies

 

This article originally appeared on the Center for Individualized Medicine blog on Oct. 3, 2017

Nov 14, 2017 · Searching for a genetic contributor to degenerative disk disease

Article by Sharon Rosen

Mohamad Bydon,M.D., with 3-D models of the spine and neck.

Most people suffer from some type of back pain during their lifetime. That’s because there are many joints in the back that can degenerate over time. In many cases, back pain can be relieved without surgery. Ice packs, heat packs, physical therapy or injections can offer relief. However, for those who suffer from degenerative disk disease, in which the tissue in a disk in the lower back breaks down, there are few treatment options. These patients may suffer chronic, debilitating pain that can impact quality of life.

According to Mohamad Bydon, M.D., the genetic signatures which underpin the disease remain unclassified, especially for young patients who develop the condition. That’s why Mayo Clinic Center for Individualized Medicine is supporting research to identify molecular changes associated with the condition, with the hopes of finding new individualized therapies.

“Young patients can develop degenerative disk disease. As a multidisciplinary team, we are examining whether certain genetic events predispose patients to this condition,” says Dr. Bydon, a Mayo Clinic neurosurgeon and a member of the research team exploring individualized therapies for degenerative disk disease.

Genomic testing could help find answers, new treatments

During surgery to repair disk damage, Dr. Bydon and his colleagues are obtaining samples of disk tissue for genomic testing to help answer these questions:

  • Is there a genetic signature that is causing disks in the spine to deteriorate early in life?
  • Do patients without the disease have some type of protective biological characteristic that prevents disk deterioration that those with degenerative disk disease don’t have?
  • Can new therapies be developed to target genetic factors and molecular processes causing the disease to slow down or reverse disk damage?

According to Dr. Bydon, this research could be especially important for patients for whom corrective surgery doesn’t work or isn’t a good choice.

“Many older patients have other complex health conditions, making them poor candidates for surgical treatment. Targeted therapies would offer these older patients a new, safer option for treatment and could help reduce their pain and improve their quality of life,” says Dr. Bydon.

Teamwork key to advancing care

“Support from the Center for Individualized Medicine has allowed us to bring together clinicians and researchers from across Mayo Clinic to help patients with degenerative disk disease find relief from their painful symptoms and return to their daily activities. This collaboration to solve unmet patient needs is what sets Mayo apart.” – Mohamad Bydon, M.D.

Dr. Bydon is collaborating with a multidisciplinary team that includes neurosurgeons, orthopedic surgeons, physiatrists, biomedical engineers, geneticists, genetic counselors and bioinformatics experts.

“Support from the Center for Individualized Medicine has allowed us to bring together clinicians and researchers from across Mayo Clinic to help patients with degenerative disk disease find relief from their painful symptoms and return to their daily activities. This collaboration to solve unmet patient needs is what sets Mayo apart – we are able to pool expertise to help improve the lives of our patients. We hope this research will lead to new treatment options for patients,” says Dr. Bydon

Joining Dr. Bydon in this research effort are Mayo researchers Andre van Wijnen, Ph.D.A. Noelle Larson, M.D.Ahmad Nassr, M.D., and  Wenchun Qu, M.D., M.S., Ph.D.

This article originally appeared on the Center for Individualized Medicine blog on Oct. 27, 2017

Aug 29, 2017 · Will health care improve if everyone has their DNA mapped?

Article by Sharon Rosen

Rapid advances in genomic testing have led to better screening and individualized treatments for many diseases, including rare genetic disorders and cancer. Now that genetic testing is becoming faster and less expensive, should it become part of routine medical care for healthy people? Should everyone have their DNA sequenced to learn the medically informative code that their genome holds? This is one of the questions Keith Stewart, M.B., Ch.B., Carlson and Nelson endowed director, Mayo Clinic Center for Individualized Medicine, will address in his keynote presentation at this year’s Individualizing Medicine Conference. The Center for Individualized Medicine will host the conference on Oct. 9-10, in Rochester, Minnesota.

Dr. Keith Stewart

“The promise – and challenge – of genomic medicine is to apply it so that it will help individualize health care for each patient without creating anxiety or leading to unnecessary ancillary testing. Once we address the barriers to bringing this powerful tool into the hands of every physician, we postulate that we will be able to offer patients better care, based on more individualized information about their health and disease,” says Dr. Stewart.

In his conference presentation, Dr. Stewart will highlight progress to date at Mayo Clinic in advancing individualized medicine and will use his personal journey of having his genome sequenced to highlight the possible benefits (and risks) that preemptive genetic testing could offer patients, including:

  • Learning if you are more likely to develop certain cancers, so you can be proactive and reduce your cancer risk with screening and lifestyle changes.
  • Offering cancer screening with a blood test, rather than PET scans, MRIs or needle biopsies.
  • Helping with family planning. Testing can reveal whether you are at increased risk of passing down an inherited condition to your children.
  • Using pharmacogenomics testing to identify how your genetic makeup affects how you process medications, helping your physician select the right medications that will provide the most benefit and minimize the chance for harmful side effects.

Dr. Stewart will also highlight how Mayo Clinic is working to overcome barriers to implementing genetic testing into everyday practice. Mayo researchers and physicians are working to address these questions:

  • How do you take complex data from genetic testing and add it to an electronic health record so physicians can easily access it, use it to guide health care decisions and explain it to their patients?
  • How can you help physicians learn to use and accept this new technology as a valuable tool to provide better care for their patients?
  • How do you continually reinterpret this information and modify it over time to create a helpful resource as genomic knowledge grows?
  • How do you show that genomic tests will reduce health care costs and improve medical care so that insurers will routinely cover these tests for patients?

Dr. Stewart is also the Vasek and Anna Maria Polak Professor of Cancer Research and a consultant in the Division of Hematology/Oncology at Mayo Clinic’s campus in Arizona.

 

 

This article originally appeared on the Center for Individualized Medicine blog on July 18, 2017.

 

 

 

Aug 22, 2017 · Three genetic tests to improve prenatal screening

Article by Sharon Rosen

New genomic technology is reshaping perinatal screening, which is testing before and during pregnancy to assess the health of a baby. Now pregnant women can have their baby initially screened for genetic disorders, such as Down syndrome, through the use of a newer blood test that evaluates DNA from the placenta present in the mother’s blood stream. Another test for couples planning a family uses a single blood sample to assess whether future children might be at risk for developing a genetic disease.

“It’s an exciting time in perinatal testing,” explains Myra Wick, M.D., Ph.D. “DNA sequencing and molecular technology has improved and become more cost effective. These tests are important for family planning prior to pregnancy as well as planning for the care of a child who is found to have a genetic disorder during pregnancy. ”

Three state-of-the-art perinatal genetic tests are highlighted below. Researchers from the Center for Individualized Medicine have helped implement several of these tests, which use a personalized medicine approach in perinatal screening.

1. Cell free DNA testing

Dr. Myra Wick

Mayo Medical Laboratories recently launched a blood test to screen for the most common chromosome disorders diagnosed in pregnancy, such as Down syndrome. It’s known as a cell-free DNA test. It screens the mother’s blood that contains DNA from the baby, looking for genetic disorders in the fetus. The new test generally has a higher detection rate and fewer false positives than traditional screening tests.

“Prior to this new test, mothers had the option of traditional first trimester screening, which is a blood test and ultrasound, or second trimester screening, which is a blood test. In general, the cell free DNA blood test can be used in place of the traditional first and second trimester screening,” explains Dr. Wick. It is important to remember that the cell free DNA testing is a screening test, and abnormal results should be followed up with additional testing.

The out-of-pocket cost for the new blood test varies depending on insurance coverage, and the specific laboratory performing the testing; a general estimate is approximately $350. Results are usually ready within one week.

 

2. Expanded carrier screening

In the past, couples had genetic screening based on family history of a genetic disorder, or if they were part of an ethnic group at risk for certain inherited diseases. Previous tests only screened for a small defined group of genetic disorders. Those tests didn’t help couples who were uncertain of their ethnic heritage, plus the tests were very limited in scope.

Now couples may choose a more comprehensive test that looks for 100 or more genetic disorders. It’s called expanded carrier screening. This test is done with a blood sample from each prospective parent.

“Expanded carrier screening looks at multiple genes associated with genetic diseases. Most of the disorders included on an expanded carrier screen are inherited in an autosomal recessive manner. This means that the parents are carriers of the disorder, with one normal copy of the gene and one abnormal copy of the gene. Carriers of an autosomal recessive disorder do not typically have signs or symptoms of the disease. A child is affected with an autosomal recessive disorder when he or she inherits one abnormal copy of the gene from mom, and one abnormal copy of the gene from dad. Approximately 5% of couples who undergo expanded carrier screening are found to be carriers for the same disorder, and at risk for having an affected says Dr. Wick.

Depending upon insurance coverage, the test costs approximately $350. Test results are returned within one to two weeks.

 

3. Whole exome sequencing (WES)

In rare cases, an ultrasound during pregnancy reveals that the baby has several medical problems. Traditional genetic testing may not identify a diagnosis. Now whole exome sequencing (WES), which looks at most of the genes linked to growth and health, can be used to evaluate the fetus’s condition. It can provide a diagnosis in 30 percent of cases.

For this testing, an amniocentesis is performed first to obtain DNA for genetic analysis.

“We are beginning to use WES even before the baby is born. Results can be used to plan for care of an infant who may be born with several complex medical concerns. In addition, parents can use this information for future family planning,” says Dr. Wick.

Whole exome sequencing is expensive, with typical costs of approximately $8,000, depending upon the specific test and insurance coverage. Results from this more complex screening usually take several weeks, depending upon the specific test being used.

 

Seek genetic counseling before selecting a perinatal or prenatal genetic test

Dr. Wick’s suggests that you ask your health care provider about genetic testing and recommends that all prospective and expectant parents consult with a medical geneticist or genetic counselor prior to undergoing any genetic screening. These professionals can help couples understand all genetic test options available, what test results may reveal, and options for medical care for a child affected with a genetic condition.

If your provider is at a large medical center, genetic counseling should be available. At smaller facilities, your primary provider may order initial blood tests, but you may be referred to a larger facility if test results indicate you need genetic counseling.

This article was adapted from the  June 23, 2017 Center for Individualized Medicine blog.

 

 

 

 

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