Genetics for Healthcare

It’s Your Life! A Breast Cancer Survivor’s Fight for Precision Medicine In Europe


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Thank you for tuning into GENETICS FOR HEALTH CARE . . . A podcast dedicated to helping patients and their caregivers advocate for a precision medicine approach to treatment, disease screening and prevention. You can find us on Spotify, Apple Podcast, YouTube LinkedIn Facebook and Instagram….soon on TikTok! Please hit that SUBCRIBE button on YouTube to get alerts and updates on new episodes like this one! Jemma Sutton, 2x breast cancer survivor and patient advocate Emersed herself in the world of genetics & genomics Share her story and Some people have to fight for access to biomarker testing or genetic & genomic testing….…………..some have to fight for access to certain therapies. You had to fight to be diagnosed with breast cancer [young age, not in screening guidelines] Told to come back in 6mo Self funded 🡺 4 MRI, bloodwork, 4 ultrasounds, xray, mammo Cat led to diagnosis Tell us about your experience and how you eventually were diagnosed with breast cancer. BC subtype? 🡪 luminal A Stage / Grade Treatment recommendations? Were you offered hereditary cancer testing? In the UK, routine screening recommendations start at age 50. In the US, the U.S. Preventive Services Task Force (USPSTF) recommends that women at average risk for breast cancer begin screening with mammograms every two years at age 40 and continue until age 74. You’ve been vocal about changing those screening guidelines. Why start screenings at age 40? 21% of new breast cancers diagnosed before age 50 Globally, cases of women diagnosed with BC befor age 50 has increased by 80% over last 30yrs Sign the petition: https://petition.parliament.uk/petitions/700062 Diagnosed at a young age, then about 2yrs later your care team notified you of…. What went through your mind when you got that call? What did you do differently in your approach to care? Genetic testing? Upwards of 10% of cancer due to hereditary mutations – CHK2 tumor suppressor gene According to a June 2023 study published in Scientific Advances by lead author Elena Orpeza You can also find this study on BreastCancer.org “Research suggests that a CHEK2 mutation can nearly double the risk of breast cancer. Although not as common as a BRCA1 or BRCA2 mutation, CHEK2 mutations have been found in up to 1.6% of the general population and in 2% to 3% of women diagnosed with breast cancer.” More likely to be Dx with Hormone + / HER-2 negative BC in pre-menopausal women Ave age Dx w/CHEK2 – 46 Ave age w/out CHEK2 – 58 More likely to be resistant to hormonal Tx, than in pre-menopausal women w/out CHEK2 I connected with you on LinkedIn and got to know your story. LinkedIn is a social medial platform mostly used for business networking. More likely to find posts of this sort on Facebook where people may have a closer personal network. Why post on LinkedIn? On a video on WorkingwithCancer.co.uk More people afraid of losing their job, than losing their life. 50% of people will be diagnosed with cancer in our lifetime. https://www.gofundme.com/f/urgent-medical-funds-for-jemma?utm_campaign=p_lico+share-sheet-first-launch&utm_medium=copy_link&utm_source=customer

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Genetics for HealthcareBy Rome Madison