Risk Assessment Toolkit

Family History Collection

PATIENT INFORMATION
NAME: __________________________________________________ DATE OF BIRTH: __________________________________________ MEDICAL RECORD NUMBER: _______________________________ DATE OF COLLECTION: _________________________________ RECORDER: ___________________________________________ HISTORIAN: ____________________________________________

SYMPTOM/DIAGNOSIS CHECKLIST
q Intellectual disability q Learning disabilities q Developmental delay q Congenital/juvenile Deafness q Congenital/juvenile Blindness q Birth defects q Neuromuscular issues q Seizures q Abnormal movements q Blood clotting or bleeding disorders q Infant death q Pregnancy losses q Unexplained death q Migraines q Cancer

PEDIGREE

Ethnicity/Ancestry:

Consanguinity:

Ethnicity/Ancestry:

_______________________________________________________________________________________________________________

_________________________________________________________________________________________________________________

___________________________________________________________________________________________________________________
Male Female Unknown S ex Affec ted I ndividual (Define c oding with a l egend) Spontaneous Abortion (SAB)
Elective Abortion

5 n P

Multiple I ndiv iduals (5) Multiple I ndiv iduals (number unknown) Pregnancy (female fetus) Monozygotic Twins

Deceased Male Adopted F emale Consanguineous Union

Affec ted Male Dizygotic Twins

published July 2012 NCHPEG All rights reserved

Family History Competencies

Risk Assessment Toolkit

INTERPRETATION Recognize Genetic Red Flags
Family history of known or suspected genetic disorder Multiple affected family members with same or related disorders Earlier age at onset of disease than expected Intellectual disability or developmental delays Diagnosis in less-often-affected sex Multifocal or bilateral occurrence in paired organs One or more major malformation(s) Disease in the absence of risk factors or after preventive measures Abnormalities in growth (growth retardation, asymmetric growth, excessive growth) Recurrent pregnancy losses (2+) Consanguinity (blood relationship of parents) Ethnic predisposition to certain genetic disorder Multi-factorial (complex) disorders Single-gene disorders: autosomal dominant, autosomal recessive, X-linked Chromosomal disorders: extra or missing chromosomes; large-scale deletions; translocations Mitochondrial

COLLECTION Recognize and understand standard pedigree symbols Produce at least a three-generation family history that: Identifies
The patient The historian, or person providing the information. This person may be the patient or someone else, such as a parent.

INTERVENTION Identify where more specific information is needed and obtain records
Assess general risks Know when to refer to genetics professionals Encourage the patient to talk to other family members Update pedigree at subsequent visits

And Includes
relatives

The patient and his or her first-, second-, and third-degree Information for maternal and paternal sides of the family Degree of relationship, including: full or half siblings, children with same or different partner(s) Affected and unaffected relatives Date of collection (or date of update), and the name of collector (or updater) Legend or key, if symbols are used to designate disease

Elicit appropriate information for individuals represented in the family history as required for clinical indications
Age, birth date, or year of birth Relevant health information, including test results if applicable Diagnosis and age at diagnosis Age at death, or years of birth/death Cause of death Ancestral background for each biological grandparent Infertility, or no children by choice Pregnancies Pregnancy complications with gestational age noted, including miscarriages, stillbirths, ectopic pregnancies, pregnancy terminations, preterm birth, preeclampsia, and bleeding/clotting complications Consanguinity (blood relationship of parents)

Recognize basic inheritance patterns

Recognize family histories that require additional interpretation

Missing information vs. unaffected relatives Reliability of information Non-traditional families Unknown paternity Adoption Cultural definitions of family Cultural biases Consanguinity Confidentiality View complete Core Principles in Family History and other family history tools at www.nchpeg.org
published July 2012 modified 8 August 2012 NCHPEG All rights reserved

Risk Assessment Toolkit

Inheritance Patterns and Recurrence Risks

AUTOSOMAL DOMINANT INHERITANCE

Affected relatives every generation Males and females equal chance of passing on mutation 50% recurrence risk to children

AUTOSOMAL RECESSIVE INHERITANCE

May be only one generation affected Both parents must be carriers of the mutation 25% recurrence risk to children

COMPLEX INHERITANCE
Clustering of biologically related conditions in the family Risk estimates based primarily on empiric data The chance of developing a complex trait depends on several factors, including: The number of relatives affected with a condition (or related conditions) How closely one is related to the affected individual(s) Similarity of the shared environment The location of disease or body system involved Severity of the condition in the affected relative The age at onset in the affected family member The sex of the affected family member

X- LINKED INHERITANCE
No male-to-male transmission Female carriers typically have milder symptoms than males Recurrence risk: 100% for daughters of affected/carrier fathers 50% for daughters and sons of affected/carrier mothers 0% for sons of affected/carrier fathers

MITOCHONDRIAL INHERITANCE
Maternal inheritance Recurrence risk: All children of affected mothers will be affected No children of affected fathers will be affected Variable expressivitymitochondrial disorders generally affect tissues in the body with high energy requirements (e.g., brain, muscles, kidneys)

published July 2012 modified 8 August 2012 NCHPEG All rights reserved

Risk Assessment Toolkit

Before the Appointment
Schedule enough time to answer questions.

Patient Centered Communication Tips

Prepare graphs and/or diagrams to help illustrate risk factors. Consider life experiences when providing risk information to a patient. For example, individuals who have a relative with a similar neurological disorder or who have experienced rare or unusual events may interpret risk information differently.

During the Appointment

Try to assess how your patients perceive their risk. Sometimes giving a qualitative risk (high, moderate, or average) can be helpful, but often it is best to avoid this without first getting a sense of what a persons perceived risk. Asking them about their perceptions before and after you provide quantative data can also help you frame a qualitative risk. Be sensitive to parents reactions they may experience a variety of emotions including guilt, anger or blame. Emphasize that they are not responsible for passing this disorder on to their child/ future children. Use simple language and discuss the symptoms and prognosis for the condition honestly and openly. Put risk in perspective The chance that your daughter would have children who were SMA carriers would be 100%, but the chance that they would also have SMA is closer to 1 in 1340 or less than 1%. Provide risk information in at least two different ways. For example, Your risk of having another child with SMA is about 1 in 4. This is the same as saying your risk is about 25%. When providing a lifetime risk, make sure to include the baseline risk for comparison The average womans lifetime risk of developing Alzheimers disease is about 5% by age 80. Individuals with mild cognitive impairment and the e4 APOE variant have an increased risk of 34% in the next several years. Emphasize positives, such as In my experience children with this diagnosis are very happy and engaged. Make sure parents understand recurrence risk for future pregnancies and have someone to speak to about these concerns and options. Consider referring to a genetics professional when discussing recurrence risk and these options. Consider referring to a genetics professional when discussing recurrence risk and these options.

For Followup
Provide a plan for follow up. Provide resources and referral as appropriate.

published July 2012 NCHPEG All rights reserved

Risk Assessment Toolkit

Collaborating with and referring to Genetics

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 risk assessment, education, and counseling. In some cases, it includes the offer and interpretation of genetic testing. The purpose is to help the patient and family to interpret and adapt to the genetic information, and make informed decisions based on his or her understanding of risks. Genetic counseling is best provided by specialists with knowledge and experience in clinical genetics, such as genetic counselors, physician geneticists, and advanced practice nurses trained in genetics. All providers, however, play a role in the genetic counseling process by: identifying patients who would benefit from genetic counseling, including patients who have personal or family histories suggestive of a hereditary syndrome; providing referral to genetic counseling services, informing patients about the reasons for and benefits of genetic counseling; helping patients identify what family medical information will be necessary for risk assessment; using the outcome of the genetics consultation to identify screening, risk reduction, and management plans; and answering questions for patients. Genetic counseling is also appropriate for patients at increased risk who do not wish to pursue genetic testing, and in cases where the patients risk status is uncertain. For questions about the need for referral, consult with the specialist.

Locating A Genetics Professional

American College of Medical Genetics: www.acmg.net National Society of Genetic Counselors: www.nsgc.org GeneTests Clinic Directory: www.genetests.org

published July 2012 NCHPEG All rights reserved

Checklist for Collaboration with a Genetics Professional

How to use this tool: This tool outlines the information you should include when referring a patient for genetic evaluation. You can print and fill it out for a patient, adapt it to use as a clinic form in your own practice, or transcribe the elements into an electronic referral form or template. Reason for Referral/History of Presenting Illness:

Developmental History On time (3) Gross Motor Fine Motor Speech Review of Systems and Physical Exam (3) if normal Constitutional Eyes ENT/Audiology Cardiovascular Respiratory Gastrointestinal Genitourinary Comments: Musculoskeletal Skin Psychiatric Endocrine Hematology Allergy Immunology Delayed (3) Regression (3)

Labs / Studies Normal (3) EEG EMG BAER MRI CT LP Metabolic Genetic Family History (3) if applicable DD MR/ID Stroke Headache/ Migraines Seizures Consanguinity Other Unremarkable published July 2012 NCHPEG All rights reserved Describe relationship to patient Abnormal (3) If abnormal, explain