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MBC Support Group
for Black Women –
Insights in Genetic
Testing
Chrissy Spears, MS, CGC
May 28th
, 2024
Image: https://www.blackingenetics.com/
Agenda Introduction
Who, What
Where, When
Why & How?
Healthcare
Disparities
Research
Opportunities
Questions?
Introduction of Speaker
Chrissy Spears, MS, CGC
▪ Undergraduate Degree
▪ Northern Kentucky University
▪ Chemistry degree
▪ Graduate Degree
▪ The Ohio State University (OSU)
▪ Masters in Genetic Counseling
▪ OSU Faculty
▪ Assistant Professor
▪ Division of Human Genetics
▪ Specialization: Breast Cancer
▪ Surgical Decisions
▪ High-Risk Clinic
Poll:
1. Who has met with a
genetic counselor or had
genetic testing before?
2. Who knows a family
member or friend that has
met with a genetic
counselor or had genetic
testing before?
Genetic Counseling…
Who Are Genetic Counselors?
▪ Healthcare professionals who help identify individuals at possible risk of
a genetic condition by gathering and analyzing personal and familial
medical history.
▪ Facilitate genetic testing if indicated through facilitated decision making
and informed consent.
▪ Provide supportive counseling, guidance, education and resources to
families to help understand their medical history.
▪ Serve as educators for other health care professionals & for the public.
▪ Most are Board Certified through the American Board of Genetic
Counselors and hold a Medical License in the state they practice.
Who Are Genetic Counselors?
▪ 7,150 genetic counselors in the United States (2,400 respondents)
National Society of Genetic Counselors. (2024) 2024 Professional Status
Survey. https://www.nsgc.org/Policy-Research-and-Publications/Professional-Status-Survey
Where Are Genetic Counselors?
▪ 28+ countries have genetic counselors with most in the US, Canada & UK
▪ Multiple delivery models: telehealth (>75%), in-person, group counseling
National Society of Genetic Counselors. (2024) 2024 Professional Status Survey. https://www.nsgc.org/Policy-Research-and-Publications/Professional-Status-Survey
What Is Genetic Counseling?
* Meeting with a genetic counselor does NOT mean you have to do the testing!
Evaluate personal and
family history of cancer
(Drawing a Pedigree)
1
Provide a risk
assessment
2
Discuss potential
impact on personal
screening,
management as well
as family members
3
Discuss testing options
and obtain informed
consent
4
Logistics such as
cost, insurance, return
of results, timeline, etc.
5
Post-Test: Reviewing
meaning of results,
referrals to necessary
providers, cascade
testing for family
members, research
opportunities, support
groups
6
Breast Cancer Genes
ATM BRCA1/BRCA2 CDH1 PALB2
CHEK2 PTEN STK11 RAD51C/RAD51D
TP53 BARD1 NF1 MORE?!
• Approximately 10% of breast cancers are hereditary
• Approximately 50% of these mutations are in BRCA1/2
Cancer, Volume: 123, Issue: 10, Pages: 1721-1730, First published: 13 January 2017, DOI: (10.1002/cncr.30498)
BRCA2 Hereditary Breast and Ovarian Cancer syndrome (HBOC)
11
Breast Cancer:
• Females: 50-85% lifetime
• Males: 2-7% lifetime
Ovarian Cancer: 10-30% lifetime
Prostate Cancer: 20-60% lifetime
Pancreatic Cancer: 5-10%
lifetime
Melanoma: Increased
NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 3.2024
Screening Recommendations
BRCA1/2
• MRI starting at age 25
• Mammogram starting at age 30 for
females (consider for men at age
50)
• Risk-reducing mastectomy
• Chemoprevention
Breast Cancer:
• Bilateral oophorectomy between
ages 35-45
Ovarian Cancer
• PSA testing at age 40
Prostate Cancer
• If family history present, MRI
and/or ultrasound guided
endoscopy starting at age 50
Pancreatic Cancer
General Population/Average Risk
12
• Mammogram starting at age 40
Breast Cancer:
• No general population screening
recommendations
Ovarian Cancer
•PSA testing at age 50
Prostate Cancer
• No general population screening
recommendations
Pancreatic Cancer
NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 3.2024;
ACS, 2024
When is Genetic Counseling Indicated?
National Comprehensive Cancer Network (NCCN Guidelines)
Personal History of Breast Cancer
▪ Diagnosed at age 50 or younger
▪ More than one primary breast cancer diagnosis
▪ Triple negative breast cancer
▪ Lobular breast cancer with personal or family history of diffuse gastric cancer
▪ Male breast cancer
▪ Ashkenazi Jewish ancestry
▪ To aid in adjuvant treatment decisions
Personal history (any age) + Family History
▪ One or more close blood relative (up to third-degree) with:
▪ Breast cancer at age 50 or younger
▪ Male breast cancer
▪ Ovarian cancer
▪ Pancreatic cancer
▪ Metastatic prostate cancer
▪ 3 or more diagnosis of breast and or prostate cancer on the same side of the family
(including yourself)
NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 3.2024
Why Should Or Shouldn’t I Consider
Genetic Counseling?
Benefits Risks/Limitations
Aid in personalized management such as surgery
decision or treatment (ie Parp Inhibitors)
Does not detect all mutations and we do not know all
genes associated with breast cancer
Find an explanation or the “why” Can identify if at risk for an additional cancer
Knowledge for family members May result in psychological or economic harm, guilt
if passing onto children
Allows implementation of early detection,
prevention strategies, & family planning
genetic testing cannot predict if, where or when
cancer could occur
May relieve anxiety Can provide false sense of reassurance - continued
general population risk for cancer
Research / clinical trials and improve disparities! Efficacy of interventions unproven / side effects /
placebo
“We have been reporting this same disparity
year after year for a decade. The differences
in death rates are not explained by Black
women having more aggressive cancers. It is
time for health systems to take a hard look at
how they are caring differently for Black
women.”
Rebecca Siegel, MPH
Senior Scientific Director
ACS Cancer Surveillance
Disparities in Breast Cancer
Black women have a 4% lower incidence rate of
breast cancer than White women but a 40% higher
breast cancer death rate for all subtypes.
▪ Systemic racism leading to higher risk of lower
socioeconomic status
▪ Access to care
▪ Later detection and treatment
▪ Twice as likely to develop triple negative breast
cancer
▪ 30% more likely to die because of lower rates
of surgery and chemoprevention
▪ Higher prevalence of obesity, diabetes, and
heart-disease
▪ Underrepresentation in clinical trials (Fairley et al,
2024)
▪ HEALTH INSURANCE
https://www.cancer.org/research/acs-research-news/breast-cancer-death-rates-are-highest-for-black-women-again.html
Disparities in Genetic Testing
1. Guidelines on who to test can be restrictive
▪ Beitsch et. al 2019 – No difference in positive rate between those
meeting 2017’s NCCN criteria vs. not
▪ American Society of Breast Surgeons 2019 statement recommended
genetic testing to all patients newly diagnosed or with a personal
history of breast cancer
2. Kurian et. al 2018 - Significantly lower provider referrals rates of Blacks
(75%) compared to Whites (93%) but no difference in uptake.
3. Ndugga-Kabuye et. al 2019 - Significantly higher variants of uncertain
significance in Black (44.5%) and Asian (50.9%) populations compared to
White women (24%)
▪ gnomAD consists of 142 thousand unrelated individuals consisting of
585 European ancestry, 12.5% Latino, 8.8% Black, 7% East Asian,
10.8% South Asian
4. Cost of genetic testing
5. Access to Genetic Counselors
6. Number of Genetic Counselors – over 310 thousand new breast cancers
estimated for the year 2024
Research Trials
▪ Bridging the disparities gap
▪ Cancer Prevention Study-3 (CPS-3)
▪ 40 year study (started in 2013) of 300,000 racially and ethnically diverse US & Puerto Rico
cohort – surveys and biospecimens
▪ https://www.cancer.org/research/cps3-cancer-prevention-study-3.html
▪ MAGIC study
▪ Clinician led point-of-care genetic testing for 474 women via 21 physicians
▪ Referred positive patients to genetic counselors
▪ No increase in emotional burden but high wait time (44 day turn around time) to get results and
no VUS’s reported
▪ https://pubmed.ncbi.nlm.nih.gov/37005005/
▪ BRCA-P
▪ Unaffected women with a BRCA1 mutation testing denosumab
▪ https://www.breastcancertrials.org.au/trials/brca-p/
How To Find A Genetic
Counselor
FindAGeneticCounselor.NSGC.
org
GenomeMedical.com
Talk to your doctor
19
Questions?
Christina.spears@osumc.e
du
References
▪ National Society of Genetic Counselors. (2024) 2024 Professional Status
Survey. https://www.nsgc.org/Policy-Research-and-Publications/Professional-Status-Survey
▪ Cancer, Volume: 123, Issue: 10, Pages: 1721-1730, First published: 13 January 2017, DOI: (10.1002/cncr.30498)
▪ NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version
3.2024
▪ Fairley, R., Lillard, J. W., Jr, Berk, A., Cornew, S., Gaspero, J., Gillespie, J., Horne, L. L.,
Kidane, S., Munro, S. B., Parsons, M., Powers, E. R., Rizzo, S. E., Tishcler, A., Wohl, H., &
Weiss, M. C. (2024). Increasing Clinical Trial Participation of Black Women Diagnosed with
Breast Cancer. Journal of racial and ethnic health disparities, 11(3), 1701–1717.
https://doi.org/10.1007/s40615-023-01644-z
▪ Peterson, Jennifer M et al. “Racial disparities in breast cancer hereditary risk assessment referrals.”
Journal of genetic counseling vol. 29,4 (2020): 587-593. doi:10.1002/jgc4.1250
▪ Beitsch, Peter D et al. “Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing
Guidelines a Tool or an Obstacle?.” Journal of clinical oncology : official journal of the
American Society of Clinical Oncology vol. 37,6 (2019): 453-460.
doi:10.1200/JCO.18.01631
▪ Kurian, Allison W et al. “Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After
Diagnosis of Breast Cancer.” JAMA oncology vol. 4,8 (2018): 1066-1072. doi:10.1001/jamaoncol.2018.0644

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MBC Support Group for Black Women – Insights in Genetic Testing.pdf

  • 1. MBC Support Group for Black Women – Insights in Genetic Testing Chrissy Spears, MS, CGC May 28th , 2024 Image: https://www.blackingenetics.com/
  • 2. Agenda Introduction Who, What Where, When Why & How? Healthcare Disparities Research Opportunities Questions?
  • 3. Introduction of Speaker Chrissy Spears, MS, CGC ▪ Undergraduate Degree ▪ Northern Kentucky University ▪ Chemistry degree ▪ Graduate Degree ▪ The Ohio State University (OSU) ▪ Masters in Genetic Counseling ▪ OSU Faculty ▪ Assistant Professor ▪ Division of Human Genetics ▪ Specialization: Breast Cancer ▪ Surgical Decisions ▪ High-Risk Clinic
  • 4. Poll: 1. Who has met with a genetic counselor or had genetic testing before? 2. Who knows a family member or friend that has met with a genetic counselor or had genetic testing before?
  • 6. Who Are Genetic Counselors? ▪ Healthcare professionals who help identify individuals at possible risk of a genetic condition by gathering and analyzing personal and familial medical history. ▪ Facilitate genetic testing if indicated through facilitated decision making and informed consent. ▪ Provide supportive counseling, guidance, education and resources to families to help understand their medical history. ▪ Serve as educators for other health care professionals & for the public. ▪ Most are Board Certified through the American Board of Genetic Counselors and hold a Medical License in the state they practice.
  • 7. Who Are Genetic Counselors? ▪ 7,150 genetic counselors in the United States (2,400 respondents) National Society of Genetic Counselors. (2024) 2024 Professional Status Survey. https://www.nsgc.org/Policy-Research-and-Publications/Professional-Status-Survey
  • 8. Where Are Genetic Counselors? ▪ 28+ countries have genetic counselors with most in the US, Canada & UK ▪ Multiple delivery models: telehealth (>75%), in-person, group counseling National Society of Genetic Counselors. (2024) 2024 Professional Status Survey. https://www.nsgc.org/Policy-Research-and-Publications/Professional-Status-Survey
  • 9. What Is Genetic Counseling? * Meeting with a genetic counselor does NOT mean you have to do the testing! Evaluate personal and family history of cancer (Drawing a Pedigree) 1 Provide a risk assessment 2 Discuss potential impact on personal screening, management as well as family members 3 Discuss testing options and obtain informed consent 4 Logistics such as cost, insurance, return of results, timeline, etc. 5 Post-Test: Reviewing meaning of results, referrals to necessary providers, cascade testing for family members, research opportunities, support groups 6
  • 10. Breast Cancer Genes ATM BRCA1/BRCA2 CDH1 PALB2 CHEK2 PTEN STK11 RAD51C/RAD51D TP53 BARD1 NF1 MORE?! • Approximately 10% of breast cancers are hereditary • Approximately 50% of these mutations are in BRCA1/2 Cancer, Volume: 123, Issue: 10, Pages: 1721-1730, First published: 13 January 2017, DOI: (10.1002/cncr.30498)
  • 11. BRCA2 Hereditary Breast and Ovarian Cancer syndrome (HBOC) 11 Breast Cancer: • Females: 50-85% lifetime • Males: 2-7% lifetime Ovarian Cancer: 10-30% lifetime Prostate Cancer: 20-60% lifetime Pancreatic Cancer: 5-10% lifetime Melanoma: Increased NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 3.2024
  • 12. Screening Recommendations BRCA1/2 • MRI starting at age 25 • Mammogram starting at age 30 for females (consider for men at age 50) • Risk-reducing mastectomy • Chemoprevention Breast Cancer: • Bilateral oophorectomy between ages 35-45 Ovarian Cancer • PSA testing at age 40 Prostate Cancer • If family history present, MRI and/or ultrasound guided endoscopy starting at age 50 Pancreatic Cancer General Population/Average Risk 12 • Mammogram starting at age 40 Breast Cancer: • No general population screening recommendations Ovarian Cancer •PSA testing at age 50 Prostate Cancer • No general population screening recommendations Pancreatic Cancer NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 3.2024; ACS, 2024
  • 13. When is Genetic Counseling Indicated? National Comprehensive Cancer Network (NCCN Guidelines) Personal History of Breast Cancer ▪ Diagnosed at age 50 or younger ▪ More than one primary breast cancer diagnosis ▪ Triple negative breast cancer ▪ Lobular breast cancer with personal or family history of diffuse gastric cancer ▪ Male breast cancer ▪ Ashkenazi Jewish ancestry ▪ To aid in adjuvant treatment decisions Personal history (any age) + Family History ▪ One or more close blood relative (up to third-degree) with: ▪ Breast cancer at age 50 or younger ▪ Male breast cancer ▪ Ovarian cancer ▪ Pancreatic cancer ▪ Metastatic prostate cancer ▪ 3 or more diagnosis of breast and or prostate cancer on the same side of the family (including yourself) NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 3.2024
  • 14. Why Should Or Shouldn’t I Consider Genetic Counseling? Benefits Risks/Limitations Aid in personalized management such as surgery decision or treatment (ie Parp Inhibitors) Does not detect all mutations and we do not know all genes associated with breast cancer Find an explanation or the “why” Can identify if at risk for an additional cancer Knowledge for family members May result in psychological or economic harm, guilt if passing onto children Allows implementation of early detection, prevention strategies, & family planning genetic testing cannot predict if, where or when cancer could occur May relieve anxiety Can provide false sense of reassurance - continued general population risk for cancer Research / clinical trials and improve disparities! Efficacy of interventions unproven / side effects / placebo
  • 15. “We have been reporting this same disparity year after year for a decade. The differences in death rates are not explained by Black women having more aggressive cancers. It is time for health systems to take a hard look at how they are caring differently for Black women.” Rebecca Siegel, MPH Senior Scientific Director ACS Cancer Surveillance
  • 16. Disparities in Breast Cancer Black women have a 4% lower incidence rate of breast cancer than White women but a 40% higher breast cancer death rate for all subtypes. ▪ Systemic racism leading to higher risk of lower socioeconomic status ▪ Access to care ▪ Later detection and treatment ▪ Twice as likely to develop triple negative breast cancer ▪ 30% more likely to die because of lower rates of surgery and chemoprevention ▪ Higher prevalence of obesity, diabetes, and heart-disease ▪ Underrepresentation in clinical trials (Fairley et al, 2024) ▪ HEALTH INSURANCE https://www.cancer.org/research/acs-research-news/breast-cancer-death-rates-are-highest-for-black-women-again.html
  • 17. Disparities in Genetic Testing 1. Guidelines on who to test can be restrictive ▪ Beitsch et. al 2019 – No difference in positive rate between those meeting 2017’s NCCN criteria vs. not ▪ American Society of Breast Surgeons 2019 statement recommended genetic testing to all patients newly diagnosed or with a personal history of breast cancer 2. Kurian et. al 2018 - Significantly lower provider referrals rates of Blacks (75%) compared to Whites (93%) but no difference in uptake. 3. Ndugga-Kabuye et. al 2019 - Significantly higher variants of uncertain significance in Black (44.5%) and Asian (50.9%) populations compared to White women (24%) ▪ gnomAD consists of 142 thousand unrelated individuals consisting of 585 European ancestry, 12.5% Latino, 8.8% Black, 7% East Asian, 10.8% South Asian 4. Cost of genetic testing 5. Access to Genetic Counselors 6. Number of Genetic Counselors – over 310 thousand new breast cancers estimated for the year 2024
  • 18. Research Trials ▪ Bridging the disparities gap ▪ Cancer Prevention Study-3 (CPS-3) ▪ 40 year study (started in 2013) of 300,000 racially and ethnically diverse US & Puerto Rico cohort – surveys and biospecimens ▪ https://www.cancer.org/research/cps3-cancer-prevention-study-3.html ▪ MAGIC study ▪ Clinician led point-of-care genetic testing for 474 women via 21 physicians ▪ Referred positive patients to genetic counselors ▪ No increase in emotional burden but high wait time (44 day turn around time) to get results and no VUS’s reported ▪ https://pubmed.ncbi.nlm.nih.gov/37005005/ ▪ BRCA-P ▪ Unaffected women with a BRCA1 mutation testing denosumab ▪ https://www.breastcancertrials.org.au/trials/brca-p/
  • 19. How To Find A Genetic Counselor FindAGeneticCounselor.NSGC. org GenomeMedical.com Talk to your doctor 19
  • 21. References ▪ National Society of Genetic Counselors. (2024) 2024 Professional Status Survey. https://www.nsgc.org/Policy-Research-and-Publications/Professional-Status-Survey ▪ Cancer, Volume: 123, Issue: 10, Pages: 1721-1730, First published: 13 January 2017, DOI: (10.1002/cncr.30498) ▪ NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 3.2024 ▪ Fairley, R., Lillard, J. W., Jr, Berk, A., Cornew, S., Gaspero, J., Gillespie, J., Horne, L. L., Kidane, S., Munro, S. B., Parsons, M., Powers, E. R., Rizzo, S. E., Tishcler, A., Wohl, H., & Weiss, M. C. (2024). Increasing Clinical Trial Participation of Black Women Diagnosed with Breast Cancer. Journal of racial and ethnic health disparities, 11(3), 1701–1717. https://doi.org/10.1007/s40615-023-01644-z ▪ Peterson, Jennifer M et al. “Racial disparities in breast cancer hereditary risk assessment referrals.” Journal of genetic counseling vol. 29,4 (2020): 587-593. doi:10.1002/jgc4.1250 ▪ Beitsch, Peter D et al. “Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?.” Journal of clinical oncology : official journal of the American Society of Clinical Oncology vol. 37,6 (2019): 453-460. doi:10.1200/JCO.18.01631 ▪ Kurian, Allison W et al. “Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer.” JAMA oncology vol. 4,8 (2018): 1066-1072. doi:10.1001/jamaoncol.2018.0644