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Medical Family History-Tools For Your Practice PowerPoint Presentation

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Description : Check out this medical PowerPoint presentation titled "Medical Family History: Tools For Your Practice".
This medical PowerPoint presentation talks about Medical family history as a tool that healthcare providers use to assess a persons risk of developing certain diseases or conditions.
Medical Family History involves gathering information about the health history of a persons immediate and extended family members, including parents, siblings, grandparents, aunts, uncles, and cousins.
By looking at patterns of illness within a family, healthcare providers can identify potential genetic factors that may increase a persons risk of developing certain conditions, such as heart disease, diabetes, cancer, or genetic disorders. This information can be used to inform medical decision-making, such as determining which screening tests a person may need or which preventative measures should be taken.
Additionally, medical family history can help identify potential environmental or lifestyle factors that may be contributing to a persons health risks. For example, if multiple family members have a history of lung cancer and also smoked cigarettes, this may indicate that smoking is a significant risk factor for that family.

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Published on : Mar 27, 2023 | Views : 1396 | Downloads : 1

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Slide 1-

Medical Family History: Tools For Your Practice National Coalition for Health Professional Education in Genetics National Society of Genetic Counselors
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Learning Objectives List three benefits of taking family history in medical practice Create a pedigree using standard symbols Identify five genetic red flags Know how to locate family history tools Know how to locate a genetics professional Use the core competencies to interpret family histories in case examples After viewing this presentation, one should be able to:
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Why Family History? Single-gene disorders: Knowledge of family history can aid in the diagnosis and treatment of rare single-gene disorders such as cystic fibrosis, fragile X syndrome, Huntington disease, or familial hypercholesterolemia. Common, complex diseases: Family history has been shown to be a major risk factor for many chronic diseases such as cardiovascular disease, cancer, mental illness, and asthma. Family history may be the primary risk factor!
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Why Family History?
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COLLECTION INTERPRETATION INTERVENTION
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Collection 1) Recognize, understand, and use standard pedigree symbols Bennett, et al. (1995). Recommendations for standardized human pedigree nomenclature. Am J Hum Genet, 56(3), 745-52.
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2) Produce at least a three-generation pedigree that includes: Collection Identification of the patient Identify the patient, or consultand, with an arrow
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Collection Identification of the proband: The proband is the affected individual who brings the family to medical attention (A consultand is often also a proband)
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Collection When the proband is not the consultand: In this case, the patient’s sister is the first person to bring the family to medical attention.
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2) Produce at least a three-generation pedigree that includes: Collection Patient’s first-, second-, and third-degree relatives Information on maternal and paternal relatives Representation of “full” from “half” relationships example: children with same or different partner Affected and unaffected relatives
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2) Produce at least a three-generation pedigree that includes: Collection Identification of the historian, or person providing the information May be the patient or someone else, such as a parent Date of collection (or date of update), and name of collector (or updater) Legend or key, if symbols are used to designate disease
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Collection Degrees of Relationship
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Collection Maternal and paternal relatives
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Collection Age, birth date, or year of birth Relevant health information Diagnosis, age at diagnosis Age at death, or years of birth/death Cause of death Ethnic background for each biological grandparent 3) Elicit the following information for individuals represented in pedigree: Adapted from: Bennett, R.L. (1999). The Practical Guide to the Genetic Family History. New York: Wiley-Liss.
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Collection Infertility, or no children by choice Consanguinity Pregnancies Pregnancy complications (note gestational age) Miscarriages Preterm birth Stillbirths Preeclampsia Ectopic pregnancies Bleeding/clotting complications Pregnancy terminations 3) Elicit the following information for individuals represented in pedigree: Adapted from: Bennett, R.L. (1999). The Practical Guide to the Genetic Family History. New York: Wiley-Liss.
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Collection Identification of patient Patient’s first-, second-, and third-degree relatives Information on maternal and paternal relatives
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Degree of relationship Distinguish “full” from “half” relationships Age, birth date, or year of birth Relevant health information Collection Age at, or year of death Cause of death
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Collection Diagnosis, age at diagnosis Affected and unaffected individuals
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Collection Pregnancies Pregnancy complications (note gestational age) Infertility, or no children by choice
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Collection Ancestral background for each biological grandparent Consanguinity
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Legend or key, if symbols are used to designate disease Date of collection (or update), name of collector (or updater) Collection Key: dementia cancer depression born with “hole in heart” Collected by: __________________ Collected on: __________________ Jane Doe August 20, 2006 d. 70s d. mid 70s d. 55 yo d. late 60s “natural causes” dementia, mid 60s heart attack ca. (colon?), late 60s 35 yo 32 yo 30 yo 2 yo 5 mo 3 yo 6 yo 1.5 yo “hole in heart” 40 yo 38 yo 35 yo d. 54 yo 61 yo 55 yo 60 yo 59 yo 63 yo accident depression, lung ca., 58 yo high cholesterol 42 yo by choice by choice *no consanguinity reported* N. European German, English, American Indian
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Collection Comprehensive General healthcare setting Elicit general health information about relatives Major medical concerns Chronic medical conditions Hospitalizations, surgeries Birth defects Mental retardation, learning disabilities, developmental delay Targeted Specialized clinical setting or evaluation for specific concerns Specific information about the condition of concern Comprehensive vs. targeted family history
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Additional StandardPedigree Symbols N N 3 4 2 “Unknown number or multiple children, males and females” No children-infertility “4 females” “2 males” “3 females” Bennett, et al. (1995). Recommendations for standardized human pedigree nomenclature. Am J Hum Genet, 56(3), 745-52.
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Consanguinity:Relationships Bennett, R.L. (1999). The Practical Guide to the Genetic Family History. New York: Wiley-Liss. First cousins First cousins once removed Second cousins
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Consanguinity:An Example Note degree of relationship Bennett, et al. (1995). Recommendations for standardized human pedigree nomenclature. Am J Hum Genet, 56(3), 745-52. N 1st cousins
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Additional StandardPedigree Symbols Fraternal Twins (dizygotic) Identical Twins (monozygotic) Affected Individuals Presymptomatic Individual Bennett, et al. (1995). Recommendations for standardized human pedigree nomenclature. Am J Hum Genet, 56(3), 745-52.
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Additional StandardPedigree Symbols Bennett, et al. (1995). Recommendations for standardized human pedigree nomenclature. Am J Hum Genet, 56(3), 745-52. Affected termination of pregnancy Termination of pregnancy Miscarriage Affected miscarriage Pregnancy: Known sex Unknown sex multiple congenital anomalies P 2 12 wks 30 wks P boy
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Additional StandardPedigree Symbols Bennett, et al. (1995). Recommendations for standardized human pedigree nomenclature. Am J Hum Genet, 56(3), 745-52. Adoption into family Adoption out of family Adoption out by relative
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Additional StandardPedigree Symbols Bennett, et al. (1995). Recommendations for standardized human pedigree nomenclature. Am J Hum Genet, 56(3), 745-52. Sperm donor Egg donor Egg donor/ gestational carrier D P D D P P
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Interpretation 1) Recognize basic inheritance patterns: Multifactorial disorders Multiple genetic and environmental factors Mitochondrial disorders Characterized by maternal transmission Usually neurological or neuromuscular symptoms Single-gene disorders Autosomal Dominant Autosomal Recessive X-Linked Chromosomal disorders Extra/missing chromosomes Large-scale deletions or duplications Translocations
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Single-gene Inheritance Autosomal Dominant
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Single-gene Inheritance Autosomal Recessive Carrier
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Single-gene Inheritance X-Linked
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Mitochondrial Inheritance
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Multifactorial Inheritance Familial Clustering alcoholism d. suicide anxiety/ depression depression ADHD mood disorder
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Chromosomal Translocation SAB SAB SAB SAB SAB CHD CHD, CP CHD, CP MR, SS MR SAB SAB CHD= Congenital heart defect CP= Cleft palate MR= Mental retardation SAB= Spontaneous abortion SS= Short stature = balanced translocation carrier
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Interpretation Family history of known or suspected genetic condition Multiple affected family members with same or related disorders Earlier age at onset of disease than expected Developmental delays or mental retardation 2) Recognize Genetic Red Flags: Do you think a condition present in a family may be genetic? Look for these clues:
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Interpretation Diagnosis in less-often-affected sex Multifocal or bilateral occurrence in paired organs One or more major malformations Disease in the absence of risk factors or after preventive measures 2) Recognize Genetic Red Flags (cont.): Do you think a condition present in a family may be genetic? Look for these clues:
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Interpretation Abnormalities in growth (growth retardation, asymmetric growth, excessive growth Recurrent pregnancy losses (2+) Consanguinity (blood relationship of parents) Ethnic predisposition to certain genetic disorders 2) Recognize Genetic Red Flags (cont.): Do you think a condition present in a family may be genetic? Look for these clues:
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Pedigrees Interpretation Pedigree: uses standard symbols and terminology to represent a large amount of information in a diagram Preferred method of organizing and displaying family history Benefits: organize a great deal of information visualize inheritance patterns and familial clustering
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Pedigrees or Checklists? Interpretation Crucial element: THE INFORMATION! The method used must: be reasonably accurate be updated easily allow for pattern detection and interpretation provide clear communication between healthcare providers Genetics and Common Disorders: Implications for Primary Care and Public Health Providers. National Coalition of Health Providers Education in Genetics. April 2005.
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Interpretation Educational opportunities Eliciting and summarizing family history information can: help the patient understand the condition in question clarify patient misconceptions help the patient recognize the inheritance pattern of the disorder demonstrate variation in disease expression (such as different ages at onset) provide a visual reminder of who in the family is at risk for the condition emphasize the need to obtain medical documentation on affected family members Bennett, R.L. (1999). The Practical Guide to the Genetic Family History. New York: Wiley-Liss.
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Interpretation Missing information vs. unaffected relatives Reliability of information Non-traditional families Unknown paternity Adoption Cultural definitions of family Cultural biases Consanguinity Confidentiality Cautions and Constraints
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1) Identify where more specific information is needed and obtain records Intervention 3) Know when to refer to genetics professionals 4) Encourage the patient to talk to other family members 5) Update pedigree at subsequent visits 2) Assess general risks
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Risk Classification
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Intervention Follow-up with patients and other providers Other providers Patient(s)
Slide 47-

Available Family History Tools Surgeon General’s Family History Initiative: “My Family Health Portrait” www.hhs.gov/familyhistory, familyhistory.hhs.gov
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Available Family History Tools “Family History: Resources and Tools” (CDC) www.cdc.gov/genomics/public/famhistMain.htm
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Available Family History Tools AMA’s Genetics & Molecular Medicine: Family History www.ama-assn.org/ama/pub/category/2380.html
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Available Family History Tools “Your Family History- Your Future” (NSGC, Genetic Alliance, ASHG)
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How to Find a Genetics Professional 1. National Society of Genetic Counselors
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How to Find a Genetics Professional 2. GeneClinics www.geneclinics.org
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How to Find a Genetics Professional 3. American Society of Human Genetics www.ashg.org
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Case Examples
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Saundra’s Family A new patient, Saundra, states that many individuals in her family have had cancer, especially colon cancer. She is certain that she is destined to develop cancer in the near future.
Slide 56-

Identify specific relatives with colon or other cancers 4) Identify the side (or sides) of the family on which cancer is present Saundra’s Family 2) Identify the ages at the diagnosis of cancer 3) Identify family members who have not had cancer How can taking Saundra’s family history help to assess her risk to develop colon cancer?
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Saundra’s Family Do you think that Saundra has a low, moderate, or high risk of developing colon cancer based on her family history? How did you assess her risk? 68 yo 60 yo d. 66 yo 76 yo 78 yo 71 yo 70 yo dx 65 yo dx 59 yo dx 52 yo d. 72 yo d. 68 yo d. 59 yo d. 70 yo dx 72 yo dx 69 yo 45 yo 42 yo 39 yo 35 yo 52 yo 49 yo 46 yo 43 yo 49 yo 45 yo 37 yo
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Do you think that Saundra has a low, moderate, or high risk of developing colon cancer based on her family history? Colon cancer Lung cancer Melanoma Colon polyps Saundra’s Family How did you assess her risk? 68 yo 60 yo d. 56 yo 76 yo 78 yo 71 yo 70 yo dx 59 yo dx 53 yo dx 50 yo dx 59 yo dx 52 yo d. 72 yo d. 54 yo d. 59 yo d. 70 yo dx 72 yo dx 52 yo dx 69 yo 45 yo 42 yo 39 yo 35 yo 52 yo 49 yo 46 yo 43 yo 49 yo 45 yo 37 yo dx 49 yo Saundra’s Family
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Factors decreasing risk of genetic basis to condition in first scenario Cancers common in general population Affected relatives are older at diagnosis Cancer on both sides of family Factors increasing risk of genetic basis to condition in second scenario Affected relatives are relatively young at diagnosis Multiple affected relatives concentrated on same side of family Saundra’s Family
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Utility of family history tools: Collection Focus on diagnoses and ages, as well as affected and unaffected individuals Interpretation Consider red flags: multiple affected family members, early age at onset Implementation Assessment of risk alters recommended surveillance Saundra’s Family
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During a routine visit, Toby mentions that he is extremely conscious of his physical health because he does not want to get heart disease like the other members of his family. Toby’s Family
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3) Identify the presence or absence of risk factors in relatives with heart disease Toby’s Family Identify specific relatives with heart disease and associated complications Identify the ages at onset of disease How can taking Toby’s family history help to assess his risk to develop heart disease?
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64 yo 61 yo 58 yo 55 yo 57 yo OB, HBP T2D, HC OB, T2D HBP, HC HA , 55 yo Toby’s Family A&W: alive and well Alz: Alzheimer's HA: heart attack HBP: high blood pressure HC: high cholesterol OB: obese RegEx: regular exercise SM: smoker T2D: type 2 diabetes Do you think that Toby has a low, moderate, or high risk of developing heart disease based on his family history? How did you assess his risk? 40 yo 37 yo 26 yo 34 yo 27 yo 30 yo 26 yo OB reg.ex. HBP C, BP: WNL d. 68 d. 65 d. 52 yo 82 yo OB, SM Alz car accident A&W HA, 64 yo
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Toby’s Family A&W: alive and well Alz: Alzheimer's HA: heart attack HBP: high blood pressure HC: high cholesterol OB: obese RegEx: regular exercise SM: smoker 40 yo 37 yo 26 yo 34 yo 27 yo 30 yo 26 yo HBP, HC reg.ex. C, BP: WNL d. 55 d. 65 d. 52 yo 82 yo HA, 55 yo Alz car accident A&W d. 48 yo 61 yo d. 50 yo 55 yo 57 yo reg.ex. HBP, HC HC HC HA , 49 yo HA, 48 yo Do you think that Toby has a low, moderate, or high risk of developing heart disease based on his family history? How did you assess his risk?
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Factors decreasing risk of genetic basis to condition in first scenario Affected family members have multiple risk factors, some of which are environmental Affected relatives are older at diagnosis Factors increasing risk of genetic basis to condition in second scenario Affected relatives are relatively young at diagnosis Disease in the absence of risk factors Toby’s Family
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Utility of family history tools: Collection Focus on diagnoses and ages at onset; also consider presence or absence of risk factors Interpretation Consider red flags: multiple affected family members, early age at onset, disease in the absence of risk factors and in the less-often-affected sex Implementation Assessment of risk alters recommended testing and health management Toby’s Family
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Baby Maria’s Family Maria (one month old) was born with a cleft lip and palate (CL/P). CL/P is commonly isolated, but can also be a part of a number of different inherited syndromes.
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Determine recurrence risk for future children Baby Maria’s Family Better management of associated health problems Identify whether features are present in other family members that are suggestive of a syndrome If features are present, identify an inheritance pattern How can taking Maria’s family history help assess whether her CL/P is isolated or syndromic? Why is this helpful?
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Baby Maria’s Family Do you think that there is a low, moderate, or high chance that Maria’s cleft lip and palate is due to an inherited condition? How did you assess this chance?
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Baby Maria’s Family Isolated Cleft Lip and/or Palate: 1 in 1000 births (0.1%) Recurrence risks Maria’s sibling: 2%-8% Maria’s child: 4%-6%
Slide 71-

Baby Maria’s Family Do you think that there is a low, moderate, or high chance that Maria’s cleft lip and palate is due to an inherited condition? How did you assess this chance?
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Baby Maria’s Family 22q Deletion syndrome: Deletion of submicroscopic deletion of ch. 22q Inheritance: autosomal dominant Recurrence risks: Maria’s sibling: 50% Maria’s child: 50% Primary features: Congenital heart defects Immune deficiency Cleft lip and palate Hypocalcemia Learning difficulties Characteristic facies
Slide 73-

Factors decreasing risk of inherited syndrome in first scenario Presence of non-specific health conditions common in the general population Features on both maternal and paternal sides No clear inheritance pattern or family clustering Factors increasing risk of inherited syndrome in second scenario Clustering of potentially related features Several genetic red flags are present Clear autosomal dominant inheritance Baby Maria’s Family
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Utility of family history tools: Collection Specifically ask about features that are often seen in syndromes associated with CL/P Interpretation Consider red flags: multiple affected family members, early age at onset, developmental delays, one or more major malformation Implementation Presence of a syndrome can alter recurrence risks and health management for the patient and family members Baby Maria’s Family
Slide 75-

Anne and Geoff Anne and Geoff want to start a family. Following ACOG guidelines, Anne’s physician makes cystic fibrosis (CF) carrier screening available to all her patients, and recommends screening to her patients who are Northern European (including Ashkenazi Jewish) or who have a family history of CF. American College of Obstetricians and Gynecologists, American College of Medical Genetics. Preconception and prenatal carrier screening for cystic fibrosis: clinical and laboratory guidelines. Washington, DC: ACOG; Bethesda (MD): ACMG; 2001.
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Identify whether CF is present in the family Determine whether Anne or Geoff are of ancestries for which CF carrier screening is recommended 3) Identify other family members who may consider carrier testing Anne and Geoff How can Anne and Geoff’s family histories help the physician decide whether to recommend CF carrier testing or simply make it available to Anne and Geoff?
Slide 77-

Anne and Geoff Cystic Fibrosis: Multisystem disease Pulmonary: accumulation of mucus Digestive: malnutrition and constipation Reproductive: bilateral absence of vas deferens (infertility) Inheritance: autosomal recessive Average life span: young adulthood
Slide 78-

Anne and Geoff 34 yo 30 yo 28 yo 25 yo 32 yo 29 yo irritable bowel migraines mitral valve syn.(31 yo) (late teens) prolapse (mid 20’s) 7 yo 4 yo 3 yo 4 yo 2yo 2 yo born at 37 wks 56 yo 57 yo 59 yo 57 yo high BP (early 40s) diabetes blood clot- leg (54 yo) (mid 40’s) Northern European, Russian African American, American Indian Do you think that there is a low, moderate, or high chance that either Geoff or Anne are carriers of a CF mutation? How did you assess this chance?
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7 yo 4 yo 3 yo 4 yo 2yo 2 yo born at 37 wks 34 yo 30 yo 28 yo 25 yo 32 yo 29 yo irritable bowel migraines mitral valve syn.(31 yo) (late teens) prolapse (mid 20’s) 56 yo 57 yo 59 yo 57 yo high BP (early 40s) diabetes blood clot- leg (54 yo) (mid 40’s) Anne and Geoff Northern European, Russian Northern European Do you think that there is a low, moderate, or high chance that either Geoff or Anne are carriers of a CF mutation? How did you assess this chance?
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Factors decreasing risk of being a CF carrier in first scenario Anne’s ancestry has a lower carrier frequency No family history Factors increasing risk of being a CF carrier in second scenario Both Anne and Geoff are of Northern European ancestry Positive family history: Anne’s nephew (second-degree relative) has CF Anne and Geoff
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Utility of family history tools: Collection Elicit ancestry of biological grandparents, relevant health information Interpretation Consider red flags: known family history, ethnic predisposition; autosomal recessive inheritance Implementation Assessment of risk determines whether carrier testing is offered; may also consider prenatal testing, pregnancy surveillance, or preparation for CF management Anne and Geoff