Genetics & Genomics in Nursing: Enhancing Competency for Future Healthcare

1. Genetics & Genomics Nursing: A New Competency Rita Leone, RN, MSN, CMSRN Clinical Nurse Specialist Beaumont Health System

2. Objectives • Introduce & explain the study Expanding RN Scope of Practice: A Method for Introducing a New Competency into Nursing Practice (MINC) • Explore the impact of genetics/genomics on the future of health care • Distinguish the terms genetics & genomics • Explain the basic elements of genetics • Describe basic patterns of inheritance • Demonstrate how genetic mutations occur

3. Expanding RN Scope of Practice: A Method for Introducing a New Competency into Nursing Practice (MINC) • Why Participate? • 2/3+ of today’s practicing RNs have little/no knowledge of genetics/genomics • Need to implement & evaluate a program to improve genetics/genomics knowledge among RNs • Primary aim of project? • Establish & assess the outcomes of a yearlong Magnet Champion intervention improve the integration of genomics into nursing healthcare delivery • Secondary aim? • Establish network of genomic nursing practice leaders and educators • Key aim? • Behavior change & diffusion of an innovation framework

4. Expanding RN Scope of Practice: A Method for Introducing a New Competency into Nursing Practice (MINC) Beaumont’s Dyad Rita Leone (Educator) & Randy Whitney (Administrator)

6. The Future of Health Care Personalized Medicine * Tailoring a patient's medical care based on his or her individual genetic makeup Diagnostics Risk Assessment Risk Modification New Biology New Drugs Pharmacogenetics: Matching specific gene variations w/ responses to particular medications *Lawrence Brody, Ph.D. National Human Genome Research Institute

7. Genetics vs. Genomics

8. Genetics 101 Remember these? Mendel’s Pea Plant Experiment: Root of all things in Genetics Punnet Squares

9. Genetics/Genomics: The Basics www-rohan.sdsu.edu

10. Genetics/Genomics: The Basics • What is DNA (Deoxyribonucleic acid)? • Biological instructions that make each species unique • Found in the nucleus • “Double helix" = DNA's winding, two-stranded chemical structure *This shape gives DNA the power to pass along biological instructions with great precision • What is DNA made of? Nucleotides (“building blocks”): • Phosphate group • Sugar group and • Nitrogen bases.. • 4 nitrogen bases in nucleotides: • Adenine (A) • Thymine (T), • Guanine (G) • Cytosine (C) *A always pairs with T & Cwith G The order of bases = biological instructions in DNA strand ATCGTT = ATCGCT =

11. The Basics • Chromosome • Long piece of DNA that cells can easily copy • Humans have 23 pairs of chromosomes (normal) • Numbered 1-22 • 23rd pair is the sex chromosome • XX (female) or XY (male) • Gene • Segments of DNA on a chromosome that carry genetic info • Has instructions for making a protein* to perform a specific job • Written as 3 letter code -“codon”- each letter (ATCG) represents a nucleotide that code for an amino acid • Each chromosome has many genes • Humans have 22,000 + *Example: amylase—protein that helps us digest food www-rohan.sdsu.edu

12. Autosomal Dominant Inheritance • Only 1 mutated copy of gene necessary for person to be affected • Affected person usually has one affected parent • Chance each child (male or female) will inherit the mutated gene is 50% • May have reduced penetrance (frequency with which a heritable trait is manifested by individuals carrying the gene/genes) *Examples: Huntington Disease & Familial hypercholesterolemia (FH)

13. Autosomal Recessive Inheritance • 2 copies of the gene must be mutated to be affected • Affected person usually has unaffected parents who each carry a single copy of the mutated gene (“carriers”) • 2 unaffected carriers have a 25% chance of (with each pregnancy) having a child affected by the disorder *Examples: Cystic fibrosis & sickle cell disease

14. X-linked Dominant Inheritance • Caused by mutations in genes on the X chromosome • Few disorders have this inheritance pattern • Males and females bothaffected • males typically being more severely affected than females. • Chance of passing on an X-linked dominant disorder differs between men and women. • Sons of an affected man will all be unaffected (receive father's Y chromosome)/daughters will all inherit the condition. • Women with X-linked dominant disorder have 50% chance of having an affected fetus with each pregnancy *Example: Fragile X Syndrome

15. X-linked Recessive Inheritance • Caused by mutations in genes on the X chromosome • Males more frequently affected than females (father only has 1 X chromosome to pass on to son---has the mutation) • Chance of passing on the disorder differs between men & women • Sons of a man with an X-linked recessive disorder will not be affected & his daughters will carry one copy of the mutated gene • Women who are carriers of an X-linked recessive disorder have… • 50% chance of having affected sons • 50% chance of having carrier daughter (carry 1 copy of the mutated gene) * Examples: Hemophilia & Duchenne Muscular Dystrophy

16. Mutations Mutations in DNA sequences can be inherited or acquired: • Acquired • when mistakes occur when a cell copies its DNA prior to cell division • DNA damage from environmental agents such as ultraviolet light (sunshine), nuclear radiation, or certain chemicals *15 cigarettes smoked = 1 genetic mutation • Inherited • If a parent has a mutation in his/her DNA, then the mutation is passed on to his/her children

17. *Example: Sickle Cell Anemia • ATG (codon) tells the cell to add the amino acid methionine (Met) • Hemoglobin starts out with methionine (Met), next comes a valine (Val) , then a leucine (Leu), etc. • Met-Val-Leu-Thr-Pro-Glu-Glu... = hemoglobin • Sickle cell anemia results from having a single difference in the 444 letters of the gene instructions for hemoglobin. *Dr. Barry Starr, Stanford University http://genetics.thetech.org/ask/ask293

18. Genetic Testing • Genetic testing is available for many hereditary cancer syndromes • Example: BRCA • BRCA mutationis a mutation in either of the genes BRCA1 and BRCA2. Mutations in these genes produce a hereditary breast-ovarian cancer syndrome in affected families. • These mutations are uncommon • Account for only 5-10% percent of all breast cancer cases in women • Genetic testing is available for BRCA mutations • Genetic counseling does not always warrant genetic testing • Insurance companies may cover the cost of genetic testing *if there is a medical indication for the test. Results = Implications for many family members…

19. Example: BRCA Gene Mutation • http://www.youtube.com/watch?v=-GwdZIqJf8g to view the 1 minute video… *right click on link > (click) Open Hyperlink

20. Test Your Knowledge • Please proceed to the next slide to begin a short (11 question) quiz on this introductory module on genetics/genomics…

21. Post-Quiz • What is/are the aim(s) of the study, Expanding RN Scope of Practice: A method for Introducing a New Competency into Nursing Practice? a. Behavior change & diffusion of an innovation framework b. Improve integration of genomics into nursing healthcare delivery c. Establish network of genomic nursing practice leaders & educators d. All of the above

22. Post-Quiz 1) The correct answer is… D All of the above—they are all aims of the MINC study

23. Post-Quiz 2) What is NOT an outcome associated with personalized medicine? a. New drugs b. Diagnostics c. Risk assessment/risk modification d. Genetic testing will be mandated for all

24. Post-Quiz 2) The correct answer is… D Mandating genetic testing for all is NOT an outcome of personalized medication

25. Post-Quiz 3) Genetics is the study of all of a person’s genes including interactions of those genes with each other & the person’s environment. Genomics is the study of genes & their role in inheritance—the way certain traits or conditions are passed down through generations. TRUE OR FALSE? a. TRUE b. FALSE

26. Post-Quiz 3) The correct answer is… B FALSE--should read… Genetics is the study of genes & their role in inheritance—the way certain traits or conditions are passed down through generations Genomics is the study of all of a person’s genes including interactions of those genes with each other & the person’s environment

27. Post-Quiz 4) Which of the following is NOT true of DNA? a. DNA contains the biological instructions that make each species unique b. DNA is found in the nucleus c. DNA has the instructions for making a protein d. DNA is made up of a phosphate group, sugar group & nitrogen bases (A,T,G,C)

28. Post-Quiz 4) The correct answer is… C DNA does NOT have the instructions for making a protein---genes have the instructions for making a protein

29. Post-Quiz 5) Chromosomes are long pieces of DNA that cells can easily copy. Humans have 23 pairs of chromosomes. a. TRUE b. FALSE

30. Post-Quiz 5) The correct answer is… A TRUE– Yes, chromosomes are long pieces of DNA that cells can easily copy. Humans have 23 pairs of chromosomes (normal).

31. Post-Quiz 6) Which of the following are true of genes? a. Genes are a stretch of DNA on a chromosome b. Humans have 22,000 + genes c. Genes contain instructions for making a protein—written in a 3 letter code (“codon”) d. All of the above

32. Post-Quiz 6) The correct answer is… D All of the above • Genes are a stretch of DNA on a chromosome • Humans have 22,000+ genes • Genes contain instructions for making a protein— written in a 3 letter code (“codon”)

33. Post-Quiz 7) Which inheritance pattern has the following characteristics : - a. Autosomal Dominant Inheritance b. X-linked Recessive Inheritance c. X-linked Dominant Inheritance d. Autosomal Recessive Inheritance *Examples: Huntington Disease & Familial hypercholesterolemia (FH)

34. Post-Quiz 7) The correct answer is… A Autosomal Dominant Inheritance • Only 1 mutated copy of gene necessary for person to be affected • Affected person usually has one affected parent • Chance each child will inherit the mutated gene is 50% (males/females =)

35. Post-Quiz 8) Which inheritance pattern has the following characteristics: a. Autosomal Dominant Inheritance b. X-linked Recessive Inheritance c. X-linked Dominant Inheritance d. Autosomal Recessive Inheritance *Examples: Cystic fibrosis & sickle cell disease

36. Post-Quiz 8) The correct answer is… D Autosomal Recessive Inheritance • 2 copies of the gene must be mutated to be affected • Affected person usually has unaffected parents who each carry a single copy of the mutated gene (“carriers”) • 2 unaffected carriers have a 25% chance of (with each pregnancy) having a child affected by the disorder

37. Post-Quiz 9) Which inheritance pattern has the following characteristics: a. Autosomal Dominant Inheritance b. X-linked Recessive Inheritance c. X-linked Dominant Inheritance d. Autosomal Recessive Inheritance *Examples: Hemophilia & Duchenne Muscular Dystrophy

38. Post-Quiz 9) The correct answer is… B X-linked Recessive Inheritance • Caused by mutations in genes on the X chromosome • Males more frequently affected than females (father only has 1 X chromosome to pass on to son---has the mutation) • Sons of a man with an X-linked recessive disorder • will not be affected & his daughters will carry one copy of the mutated gene • Women who are carriers of an X-linked recessive disorder have… • 50% chance of having affected sons • 50% chance of having carrier daughter (carry 1 copy of the mutated gene)

39. Post-Quiz 10) Which inheritance pattern has the following characteristics: a. Autosomal Dominant Inheritance b. X-linked Recessive Inheritance c. X-linked Dominant Inheritance d. Autosomal Recessive Inheritance *Example: Fragile X Syndrome

40. Post-Quiz 10) The correct answer is… C X-linked Dominant Inheritance • Caused by mutations in genes on the X chromosome • Males and females both affected males typically being more severely affected than females • Chance of passing on an X-linked dominant disorder differs between men and women • Sons of an affected man will all be unaffected (receive father's Y chromosome)/daughters will all inherit the condition • Women with X-linked dominant disorder have 50% chance of having an affected fetus with each pregnancy

41. Post-Quiz 11) A mutation in BRCA1 & BRCA2 gene causes breast & ovarian cells to grow & divide too rapidly, increasing a person’s risk for breast & ovarian cancer. *Accounts for only 5-10% percent of all breast cancer cases in women a. TRUE b. FALSE

42. Post-Quiz 11) The correct answer is… A True--a mutation in BRCA1 & BRCA2 gene causes breast & ovarian cells to grow & divide too rapidly, increasing a person’s risk for breast & ovarian cancer. Again, this is not common, accounting for only 5-10% percent of all breast cancer cases in women.

43. Thank you! • You have completed the module If you have any questions, please contact Rita Leone @ Rita.Leone@beaumont.org