Guidance counselors for your genes?

At-home DNA tests, and disease-specific tests, make genetic counselors more important than ever

Genetic counselors can help anyone understand their genetic risks, or results of genetic tests.

Genetic counselors can help anyone understand their genetic risks, or results of genetic tests.

Once upon a time, getting your DNA tested was a rare thing – as rare as the genetic diseases that the tests tried to detect.

But no more.

These days:

  • You can order a kit through the mail that can tell you what diseases you’re at risk of developing down the road.
  • Your doctor can order dozens of tests to look for specific changes or variations in your DNA that might be causing your symptoms, or putting you at risk of future problems.
  • Or if you’re pregnant, you can have your doctor draw a vial of your blood, which you can send in to get information about the DNA of your future child.

And the ability to personalize treatment based on the exact gene variations you carry in your body is speeding up for many conditions.

How is an ordinary person supposed to make sense of all this genetic information?

And what do you do if you take a test and it shows you have a high risk or a current problem?

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Gathering your family medical history

family medical historyIt’s not uncommon for younger family members to ask where their grandparents came from, where they lived or how many children they had. Playing detective to figure out the names, locations and relationships of older relatives or distant generations can be fun. Gathering your family medical history can be interesting, too, with the added value of helping the people you love. The results might reveal a family connection to inherited conditions and diseases. Uncovering these kinds of family links can help doctors take better care of your loved ones, including recommending screenings, genetic testing, and looking for early warning signs of disease, including cancer.

Jessica Everett and Victoria Raymond, U-M genetic counselors, say that red flags concerning cancer in your family’s medical history can include:

  • More than one relative with the same or related cancers
  • Being younger than average when diagnosed
  • Having more than one primary cancer
  • Having a rare or unusual cancer

More tips:

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Gene sequencing to seek treatments for advanced cancers

gene sequencingMI-ONCOSEQ is one of those initiatives you’ll only find at a world-class institution like the U-M Comprehensive Cancer Center. The SEQ part of the name stands for gene sequencing: the more we understand about the genetic makeup of advanced cancers, the more researchers can develop and test new theories about how to treat metastatic disease. Every Cancer Center patient with metastatic cancer is invited to participate in this genetic sequencing effort. (Ask your oncologist).

“Even if it won’t necessarily cure me, at least I can do something to help the next 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

The PALB2 gene

An update on cancer risks and indications for referral for genetic counseling

PALB2 geneThe PALB2 gene, which is also called the partner and localizer of BRCA2, is a gene that contributes to inherited susceptibility to breast cancer and perhaps ovarian and pancreatic cancers. The PALB2 gene contains the directions for making a protein that acts together with the BRCA2 protein. When they are functioning normally, these two genes work together as tumor suppressors.

How does cancer start at the genetic level?

Most cancers occur when two mutations in a tumor suppressor gene occur in a single cell during a person’s lifetime. Some individuals inherit an altered copy of a tumor suppressor gene. If a second mutation occurs in the tumor suppressor gene in any cell of their body, a tumor may develop. Since they already have an altered tumor suppressor gene in all of the cells of their body, individuals with an inherited mutation in a tumor suppressor gene are more likely to develop cancer.

Cancer due to an inherited alteration in a tumor suppressor gene is more likely to occur at a younger age (for example, Continue reading

Revisiting your genetics – is one appointment enough?

genetics“I already went to see a genetic counselor and I was negative. So I don’t need to think about genetics anymore, right?” Actually, reconnecting with your genetic counselor every once in a while is a good idea. The field of genetic science is an ever-changing field. New discoveries are made all the time that can help us better understand the influence of genetics on a person’s health. For many people it is a huge relief when they revisit a genetics clinic and have testing that does not identify any mutations.

Why would anyone want to go back?

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