Genetic testing leads to diagnosis for rare Von Hippel Lindau disease

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Haley Miller and her daughter, Layla

 

Haley Miller, now a wife and mother of two, went to her first genetic testing appointment at age 20.

“It was around 1999 and genetic testing had just been developed. As soon as it had, the doctor recommended our whole family go, so we did,” Miller says.

Most families don’t just think of setting up genetic testing, but when Miller’s father was diagnosed and eventually passed away from complications of Von Hippel Lindau, their family knew it could only help.

Von Hippel Lindau (VHL) is an inherited disorder where those affected experience abnormal growth of tumors and cysts throughout the body. The tumors can be both benign and cancerous and many of them can be found in the adrenal glands, kidneys, pancreas and central nervous system. Those affected by VHL undergo body scans each year to check for progression and changes in the disorder. Continue reading

Every rare diagnosis reaffirms importance of research

Rare Disease Day is Feb. 29

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Heather Hawkins enjoys as normal a life as she can, while dealing with a rare condition called ARSACS.

Every time he treats a patient with a rare condition, Vikram Shakkottai is reminded that these rare diseases might affect more people than we think.

The neurologist and director of the University of Michigan Health System’s Ataxia Clinic has seen a spectrum of symptoms from one patient to the next who have the same diagnoses. It’s why he believes advancing research and genetic testing is so important.

Dr. Shakkottai pursued genetic testing with patient Heather Hawkins, who came to see him a few years ago to talk about trouble keeping her balance. Continue reading

An inconclusive genetic test result: what does it mean?

Questions you can ask to help understand

An inconclusive genetic test result is called a VUS, for genetic variant of unknown significance

Genetic test results are either positive, negative, or less commonly, VUS. This stands for genetic variant of unknown significance.

Most results of genetic testing for inherited susceptibility for cancer are either negative (meaning no gene mutation or change was found) or positive (meaning a gene mutation that causes an increased risk for cancer was found). However, a small portion of tests result in an inconcolusive genetic test result, or what is termed a variant of unknown or uncertain significance, or VUS.

A VUS is a change in the normal sequence of a gene, where the significance of the change is unclear until further study of a sufficiently large population. Complete gene sequencing often identifies many variants for a given gene. Continue reading

How genetic testing, precision medicine impact breast cancer treatment choices

Doctor holding X-ray film and woman in pink braAs cancer treatment focuses more and more on precision medicine and as genetic testing becomes more commonly available, what does it mean for patients as they consider their treatment options?

In a commentary published in the Journal of the American Medical Association, researchers suggest that we must improve how genetic information is used to make breast cancer treatment decisions. The paper is authored by Steven Katz, M.D., M.P.H., Monica Morrow, M.D., and Allison Kurian, M.D., from the Cancer Surveillance and Outcomes Research Team, a multidisciplinary group of investigators at the forefront of understanding how women make decisions about breast cancer treatment. mCancerPartner talked with Dr. Katz about these issues. Continue reading

Thanksgiving: an ideal time to talk about family health history

family health historyThe U.S. Surgeon General has declared Thanksgiving Day as National Family Health History Day since 2004. Over the holiday or at other times when families gather, the Surgeon General encourages Americans to talk about, and to write down, the health problems that seem to run in their family.

Family members share genes, environment, lifestyles and behaviors that can determine shared risk for diseases such as various cancers, heart disease, diabetes, stroke and obesity. That’s why family gatherings like Thanksgiving are the perfect time to collect your family health history, record it for the future, and encourage family members to share it with their health care providers. These easy steps can help you understand the risk for various diseases and encourage early detection and prevention. Continue reading

Freeing genetic data for the common good

Sharing your BRCA genetic test results can help others with hereditary breast and ovarian cancer

pondering dna.fwThe Supreme Court of the United States ruled in June 2013 that naturally occurring human DNA cannot be patented, after hearing a case centering on patents on the BRCA1 and BRCA2 genes held by Myriad Genetic Laboratories. The decision led to several new laboratories beginning to offer testing of the BRCA genes, but also highlighted a related problem with interpreting results from the testing. Freeing genetic data can help.

Why would freeing your genetic data help?

Interpretation of genetic test results is a complicated process that depends on available data and some amount of comparison with results from other patients and families. Many scientists have advocated for use of open databases where research and commercial laboratories could come together to share results.

Combining data from many sources increases the ability to understand results for individual patients. Researchers and health care providers have been contributing information about BRCA1 and BRCA2 mutations to the National Center for Continue reading