Genetic Counseling Who, What, Where, When, Why, & How. Kate Zellmer, MS, CGC Certified Genetic Counselor Aurora Health Care

Transcription

1 Genetic Counseling Who, What, Where, When, Why, & How Kate Zellmer, MS, CGC Certified Genetic Counselor Aurora Health Care

2 Genetics is rapidly becoming a central organizing principle in medical practice. - Thompson & Thompson

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4 WHO is a Genetic Counselor? Healthcare specialist with advanced degrees Advanced Practice Providers Multidisciplinary or Singular

5 WHAT does a genetic counselor do?

6 WHAT does a genetic counselor do? Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition. Helps with continuity of care by providing a central base of support for referrals, follow-up, emotional well-being

7 WHAT do genetic counselors do?

8 WHERE does a genetic counselor work? Hospital Clinic Prenatal Pediatric Cancer Adult University/school Administration Research Public Health Consulting Industry Pharmaceutical Genetic testing labs Medical boards

9 WHEN is a genetic counselor needed? Known family history of disease Unexplained unusual features Pregnancy concerns from ultrasound/testing Development of new tests and their implications Public health initiatives Newborn screening Cancer screening Transition of care from pediatrics to adult to geriatric management Daily living changes Screening guideline changes

10 WHY be a genetic counselor? An opportunity to work in science and have interaction with individual patients and their families. After college there is only two years of graduate training. The average salary for a genetic counselor was reported as over $50,000. About 90% of genetic counselors report satisfaction with The intellectual challenges of the field Learning opportunities Patient contact/counseling Opportunities for personal growth Autonomy in their current position (Based on the 2004 NSGC Professional Status Survey)

11 HOW do you become a genetic counselor? Bachelors degree in a variety of majors Genetics, Biology, Psychology, Business, etc Advocacy experience Crisis hotlines Volunteerism Special Olympics/Autism groups/etc Leadership roles in church/school/community Job shadowing Contact a local GC Knowledge of field and associated topics Ethical dilemas, emerging research, conditions/tests

12 Resources National Society of Genetic Counseling (NSGC) American Board of Genetic Counseling (ABGC) March of Dimes American Cancer Society Genetic Home Reference GeneReviews

13 THANK YOU!!!! ANY QUESTIONS???

14 Scenario 1 Guess the Disease: Short stature Widely-spaced eyes (hypertelorism) Speech delays Unusual elbow angles Webbed neck Only happens in females

15 Turner Syndrome

16 Scenario 2 You are a senior in high school and captain of the basketball team You re 6 4 with an awesome fade-away shot. College recruiters have offered you a full-ride scholarship to play basketball at the college of your choice You ve always had this strange chest deformity, but it s never hindered you in any way You wear glasses for nearsightedness Your uncle just died suddenly of a heart attack, and he had other features similar to you. A diagnosis of Marfan Syndrome has been made in your family, and your doctor is recommending testing.

17 Scenario 2 Would you quit playing basketball knowing you re at an increased risk of heart attacks and sudden death? Once you turn 18, would you get formally evaluated/tested? What else would you do or not do?

18 Scenario 3

19 Muir-Torre syndrome Clinical Diagnosis by: Presence of sebaceous skin lesion Sebaceous ademona, keratoacanthoma, etc Presence of visceral malignancy Colon cancer, urogenital cancer (bladder), endometrial Genetic mutations in MLH1 and MSH2 genes No universal screening recommendations Unlike BRCA1/2 which DOES have recommendations Follows autosomal dominant inheritance

20 Scenario 4 What do we know? Is anyone else a carrier/affected? Can anyone guess the disorder? P

21 P

22 Scenario 4 Fragile X Syndrome: X-linked inheritance 1:4000 males; 1:8000 females Carrier frequency = 1 in 225 for a premutation The larger the premutation, the higher chance of expansion into a full mutation if passed on 1 in 45 for grey zone mutation Premutation carriers at risk for: Premature ovarian failure Ataxia/tremor Mild physical features

23 Scenario 5

24 Scenario 5 Trisomy 18 Can be suspected on ultrasound or by screening tests Can be diagnosed by CVS/amniocentesis or after birth 90-95% of babies do not live long It is a genetic condition but rarely hereditary

25 Scenario 6

26 Scenario 6 Spinal Muscular Atrophy (SMA) Autosomal recessive inheritance Some providers are screening all pregnant women 4 different types; varying severity This pt is 13yo and the mom did not want him told his diagnosis; do you agree? Would you tell his older siblings of their risk? How would you tell the pt about his dx?

27 Scenario 7 Baby is born at full term and healthy Undergoes newborn screening at 12hrs of life At 11 months of age- she starts having jerking movements, seizures, and not meeting developmental milestones Doctor exams and notices a small head, light skin/eyes, and poor weight gain since the baby s been given solid foods What might the baby have?

28 Scenario 7 PKU- Phenylketonuria Part of newborn screening, but must be drawn after 24hrs of life (can be missed if drawn too early) Individual cannot break down phenylalanine, which is found in meat, dairy, and nuts/beans (protein products) The buildup of phenylalanine is toxic to the baby & baby s brain Can cause: seizures, cognitive disability, developmental delay It s best to start special diet ASAP to minimize symptoms Mom s with PKU need to reassess their diet when pregnant, even if they have been stable prior to pregnancy How might this affect the child in school? Treats? Birthday parties & sleepovers? What s the biggest tip??? READ LABELS!!!