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Genetic Testing and Counseling

This past June 2017, published as part of the AACR’s Pediatric Oncology Series, members of the LFS Association’s Genetic Counselor Advisory Group generated an insightful report entitled, “Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient.”  In this time of rapid developments in cancer genetics and research technologies, we appreciate the efforts of our genetic counselors who address the unique challenges in those with familial cancer syndromes.  To our genetic counselors – on behalf of the LFS community members who benefit from your dedication, we take our hats off to you!


Understanding Hereditary Cancer in the Era of Multi-Gene Panel Testing: Collaborative Best Practices Review and Recommendations.  In May 2015, LFS Association Vice-President Susan Faulkner, along with other  patient advocacy groups, participated in a discussion of the changing need of patients and families with regard to hereditary multi-gene panel testing. Brought to us all by Myriad Genetics, this paper summarizes the best practices identified, along with the discussion of relevant factors and personal stories.  (January 2016)



Cancer: Genetic testing can save lives.” Written in Portuguese, here’s an article about LFS in Brazil – it discusses their unusually high incidence of LFS cancers, the challenges of some LFS families, issues relative to genetic testing, and the remarkable research of the Li-Fraumeni Exploration (LiFE) Research Consortium’s Dr. Maria Isabel Achatz of the A.C. Camargo Cancer Center. (09/25/2015)  Here is the article roughly translated through Google to English:  Cancer – Genetic testing can save lives Brazil

Cure magazine: Raising Awareness About Genetic Counseling and Testing. “Genetic testing is only as good as its interpretation.” Read about Amy Byer Shainman’s passion for accessibility of genetic testing, and the significance of genetic counseling – and that just because a test is negative for one specific gene, such as BRCA, that doesn’t rule out other genetic mutations such as those seen in Li-Fraumeni, Lynch, and other syndromes. (09/03/2015)

A new study suggests that for some children, extensive genetic analysis can open up options – it found that among children with rare or aggressive cancers, genetic, sequencing revealed potentially “actionable findings” in almost half of them. For some, that meant a change in diagnosis; for others, an inherited gene mutation was found, which allowed other family members to be tested. (US News & World Report, 09/01/2015)

DFCI’s Insight: Family Ties – Why Genetics Matter. Genetic testing is recommended for people with personal or family histories that suggest an inherited genetic component – a family pattern of cancer, a close relative with a known gene mutation, someone diagnosed with cancer at an early age or with multiple cancer types… Long-time director of the Dana-Farber Cancer Institute’s Center for Genetics and prevention, our Dr. Judy Garber says, “People should not be afraid to discuss genetic testing with their doctors…” The article also addresses the costs for genetic testing, and how it can range considerably. For patients who are the first in their families to be tested, the average cost ranges from $1,500 to $3,500 – if the testing is narrowed because a family genetic mutation has already been identified, the cost averages $300 to $400. “Many private insurance plans will cover the cost, but Medicare will cover costs for genetic testing only if the patient has already been diagnosed with a cancer.” (06/10/2015)

ACOG’s Hereditary Cancer Syndromes and Risk Assessment: new guidelines have been developed for obstetricians and gynecologists to consider regarding genetic predispositions to cancers such as breast and ovarian cancers, and those related to Lynch, Cowden, Peutz-Jeghers, and Li-Fraumeni syndromes. (June 2015)

AACR: Advancing Personalized Care Medicine. Dana-Farber’s Dr. Nikhil Wagle discusses how to truly have an informed decision regarding treatment utilizing detailed genomic analyses.

A presentation on the high prevalence of germline TP53 mutations in young osteosarcoma cases is currently scheduled to be presented at the American Association of Cancer Research’s Annual Meeting in Philadelphia this month. Researchers conclude that genetic counseling and TP53-mutation testing of all young patients with osteosarcoma should be considered.  Read about it here.

National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes (April 2013)

The Vancouver Sun, “Medicine Matters” (April 30, 2015): Chiquita Hessels shares her family history and her outlook of the test results affirming LFS. Ms. Hessels felt liberated with the news, “like the weight of the world was lifted off my shoulders… For me, it was an a-ha moment. It gave me answers and I’ve always felt like knowledge is power.”

American Cancer Society: Consider genetic testing – thus far, research doesn’t show “a lot of long-term distress as a result of getting the information….” In fact, “most people (who test positive for a genetic predisposition) are proactive and engaged in risk reduction behaviors. People who test positive tend to take action through ‘engaging in enhanced screening, risk-reducing surgery, or chemo prevention.'” (Personalizing Part 3)

“Even though a person may have a genetic predisposition to a particular medical concern, in many cases they may still have some control over the likelihood of acquiring that condition.” (March 22, 2015)

Cure magazine: “….genetic testing for particular genetic mutations may save their lives if they are vigilant with their lifestyles and screenings – such a diagnosis does not necessarily entail a death sentence.” Additionally, genetic counseling, coupled with genetic testing, may provide immeasurable relief by reducing uncertainties. (March 18, 2015)

Need a genetic counselor? Use NCI’s Cancer Genetics Services Directory, and search by specifying “Li-Fraumeni Syndrome.” Though they are not necessarily endorsed by the NCI, the 536 professionals listed for LFS meet certain criteria to be listed. Further search by location.


LFS Association

We are families, like you who have been devastated by the effects of Li-Fraumeni Syndrome, a hereditary cancer predisposition syndrome. Our hopes are to educate, raise awareness and find better screening programs and treatments for LFS.


Medical Resources

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LFS News

WETB’s Gayle Ong was one of several reporters covering the event and story of LFS and Mo Songs for Kerry.

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Community Events

Carly Grant – Mohawk Hudson River Marathon 2017
Support Carly and the Li-Fraumeni Syndrome Association as she raises money and trains for the Mohawk Hudson River Marathon on October 8th!


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LFS Awareness Brochure

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