does%it%run%in%the%family?% - genetic · pdf file• paent...

Does It Run in the Family?

D O E S I T R U N I N T H E FA M I LY ?

A Guide to Genetics and Health

Learning Objec:ves •  Understand content and intended use of the Does It Run in the Family? toolkit

•  List three benefits of taking a family health history –  Clinical care –  Community

•  Create a pedigree using standard symbols •  Iden;fy “red flags” •  Know where to locate family health history tools •  Know how to locate a gene;cs professional and gene;cs support services

•  Interpret family health histories in case examples

Why family health history?

•  In a CDC-‐based survey of over 4,000 individuals: – 97% thought that knowledge of family health history was important

– But only 30% had ever collected informa;on from rela;ves

Why family health history?

Family health history is an accessible tool that:

•  Iden;fies trends and paOerns of disease that may lead to treatment or preven;on

•  Allows a healthcare provider to diagnose condi;ons and understand risk

•  Captures heredity, diet, and environment in one loca;on •  Increases health and gene;cs knowledge for the

individual and the family •  Promotes conversa;ons about health in the family and

community

Why family health history? In the Clinic

•  Informs Diagnosis: FHH is an independent and significant risk factor for many disorders.

•  Promotes Risk Assessment: Allows providers to more effec;vely personalize and priori;ze health messages.

Why family health history? In the Clinic

•  Detects, manages and prevents disease: Once risk is determined, providers can advise appropriate interven;ons to improve pa;ent outcome.

•  Creates opportuni@es for pa@ent educa@on: FHH provides an excellent teachable moment and facilitates provider-‐pa;ent partnership.

Why family health history? In the Community

•  Promotes conversa;ons about health within families.

•  Overcomes s;gma and privacy concerns that can make it difficult to discuss health within families.

•  Increases awareness of familial health risks. •  Empowers individuals and families to become stewards of their own health.

Why family health history? In the Community

•  Increases community involvement in health educa;on.

•  Encourages posi;ve health changes. •  Offers a bridge to health discussion that is easily adaptable and sustainable in diverse communi;es.

Unique access points

•  Types of informa;on – Health (medical and non-‐medical models) – Environment – Lifestyle – Culture – Family rela;onships

Unique access points

•  Mul;ple access points – Healthcare providers – Disease-‐specific organiza;ons – Non-‐tradi;onal health communi;es

– Racial/ethnic groups

Unique access points •  FHH can be integrated easily into community programs and ini;a;ves in innova;ve ways: –  Contests –  Fitness ac;vi;es –  Volunteer programs –  Picnics, par;es –  Family events (weddings, reunions) – Webinars and trainings –  Art and video projects

Does It Run In the Family? toolkit

•  Accessibility •  Community Input •  Evalua;on •  Sustainability •  Resource Sharing



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www.familyhealthhistory.org

Online customizable Does It Run In the Family? toolkit

“A Guide to Family Health History”

Content: • Collect • Organize • Understand

Customize: • Personal health stories

• Photos • Quotes •  Interview ques;ons

Content: • Gene;cs 101 • Condi;ons that run in the family

• Hints for health

Customize: • Health condi;on informa;on

• Risk sta;s;cs • Resources

“A Guide to Gene:cs and Health”



Real time

Interactive

Print is personal

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• Communica;on is an important part of family health history

• Exchange of informa;on sparks conversa;on • Shared experience with… ‣  Family ‣  Friends ‣  Doctor

Not a point-‐of-‐care, stand-‐alone tool

18

•  Intended for discussion over ;me • Can be used with: ‣  Other print resources ‣  Other types of tools (online, etc.)

Validated in community seOng

19

Significant changes in: • Hearing anyone in family talk about FHH • Sharing wriOen materials about FHH with family members

• Talking to family about FHH • Seeing materials on FHH • Reading about FHH

Why did we do this project?

•  Many do not connect stories of family illness with themselves.

•  Many do not connect family health history and gene;cs.

•  Many are in;midated with a formal pedigree.

•  Many do not know how to translate what they know to informa;on for providers.

Ques:ons? D O E S I T R U N I N T H E FA M I LY ?


It’s in the Genes!

•  What is a gene? –  Instruc;on manual for your body.

•  What is a trait? – Feature passed down from genera;on to genera;on

RISK = Genes + Environment

•  Genes may be outside of our control, but many aspects of health are within our control: – Diet – Exercise – Smoking – Stress

•  Family health history is not only about shared illnesses. It is also about shared environments and habits.

COLLECTION

INTERPRETATION

INTERVENTION

Family health history collec:on

Me Sister Brother

Mom Dad Maternal Uncle

Maternal Aunt

Maternal Grandmother

Maternal Grandfather

Paternal Uncle

Paternal Cousin

Paternal Grandfather

Paternal Grandmother

My generation

Parents’ generation

Grandparents’ generation

Family health history collec:on

Crucial element: THE INFORMATION!

The method used must: 1) be reasonably accurate 2) be updated easily 3) allow for paOern detec;on and interpreta;on 4) provide clear communica;on and interpreta;on between healthcare providers

Pedigree or checklist? Interpreta:on

Pedigree Interpreta:on

•  Pedigree: uses standard symbols and terminology to represent a large amount of informa;on in a diagram

•  Preferred method of organizing and displaying family history

•  Benefits: 1) organize a great deal of informa;on 2) visualize inheritance paOerns and familial clustering

1) Produce at least a three-‐genera;on pedigree that includes:

Collec:on

•  Iden;fica;on of the pa;ent –  Iden;fy the pa;ent, or consultand, with an arrow

Collec:on

•  Iden;fica;on of the proband: –  The proband is the affected individual who brings the family to medical aOen;on

–  (A consultand is omen also a proband)


Collec:on

•  Pa;ent’s first-‐, second-‐, and third-‐degree rela;ves •  Informa;on on maternal and paternal rela;ves •  Representa;on of “full” from “half” rela;onships

–  example: children with same or different partner

•  Affected and unaffected rela;ves

Collec:on: Degrees of rela:onship

First-‐degree rela:ves: parents, siblings, children

Second-‐degree rela:ves: half-‐siblings, aunts, uncles,

grandparents, nieces & nephews

Third-‐degree rela:ves: first cousins

Collec:on: Maternal and paternal rela:ves

Maternal and paternal rela;ves

Paternal Maternal


Collec:on

•  Iden;fica;on of the historian, or person providing the informa;on – May be the pa;ent or someone else, such as a parent

•  Date of collec;on (or date of update) and name of collector (or updater)

•  Legend or key, if symbols are used to designate disease

Collec:on

•  Age, birth date, or year of birth •  Relevant health informa;on •  Diagnosis, age at diagnosis •  Age at death, or years of birth/death •  Cause of death •  Number of pregnancies •  Infer;lity or no children by choice

2) Elicit the following informa;on for individuals represented in pedigree:

Adapted from: Bennett, R.L. (1999). The Practical Guide to the Genetic Family History. New York: Wiley-Liss.

3) In-‐depth ques;ons to ask:

Collec:on

•  Do any condi;ons run in the family? •  Does anyone in the family have the same or similar disorder or condi;on?

•  Pregnancy complica;ons (note gesta;onal age) Miscarriages Preterm birth S;llbirths Preeclampsia Ectopic pregnancies Bleeding/cloong complica;ons Pregnancy termina;ons Adapted from: Bennett, R.L. (1999). The Practical Guide

to the Genetic Family History. New York: Wiley-Liss.

•  Does/did anyone in the family have any birth defects?

•  What country do your ancestors come from? •  Are your families related in any way (consanguinity)?

Adapted from: Bennett, R.L. (1999). The Practical Guide to the Genetic Family History. New York: Wiley-Liss.

3) In-‐depth ques;ons to ask:

Collec:on

Consanguinity: Rela:onships

Bennett, R.L. (1999). The Practical Guide to the Genetic Family History. New York: Wiley-Liss.

First cousins First cousins once removed

Second cousins

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

•  Match reported history with medical records •  Collect informa;on on unaffected rela;ves •  Record age at death •  Make a key if using symbols or abbrevia;ons •  Males (paternal) on lem, females (maternal) on right

Tips

Collec:on

•  Iden;fica;on of pa;ent •  Pa;ent’s first-‐, second-‐, and third-‐degree rela;ves •  Informa;on on maternal and paternal rela;ves

Collec:on

•  Degree of rela;onship –  Dis;nguish “full” from “half” rela;onships

•  Age, birth date, or year of birth •  Relevant health informa;on

•  Age at, or year of death •  Cause of death

d. 70s d. mid 60s d. 55 yo d. late 60s “natural causes” demen;a heart aOack cancer (colon?)

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 cancer high cholesterol

Collec:on

Collec:on •  Diagnosis, age at diagnosis •  Affected and unaffected individuals

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


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

Collec:on •  Pregnancies •  Pregnancy complica;ons (note gesta;onal age) •  Infer;lity, or no children by choice


35 yo 32 yo 30 yo


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

Collec:on •  Ancestral background for each biological grandparent •  Consanguinity


35 yo 32 yo 30 yo


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

Collec:on •  Legend or key, if symbols are used to designate disease •  Date of collec;on (or update), name of collector (or updater)

Key: dementia cancer

depression born with “hole in heart”

Collected by: Jane Doe Collected on: 5/5/11


35 yo 32 yo 30 yo


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

Interpreta:on

•  Family history of known or suspected gene;c condi;on •  Mul;ple affected family members with same or related

disorders •  Earlier age at onset of disease than expected •  Developmental delays or mental retarda;on •  Diagnosis in less-‐omen-‐affected sex •  Mul;focal or bilateral occurrence in paired organs

2) Recognize gene;c red flags:

Interpreta:on

•  One or more major malforma;ons •  Disease in the absence of risk factors or amer preven;ve

measures •  Abnormali;es in growth (growth retarda;on,

asymmetric growth, excessive growth •  Recurrent pregnancy losses (2+) •  Consanguinity (blood rela;onship of parents) •  Ethnic predisposi;on to certain gene;c disorders

2) Recognize gene;c red flags:

Cys:c Fibrosis

European Ashkenazi Jewish

Sickle Cell Disease

African Asian Indian Middle East

Mediterranean

Beta-‐thalassemia

Mediterranean Asian

Middle Eastern Hispanic

Caribbean

Tay-‐Sachs disease

Ashkenazi Jewish French Canadian

Cajun Pennsylvania Dutch

Alpha-‐thalassemia

SE Asian African

Caribbean

Canavan disease Familial Dysautonomia Mucolipidosis IV Niemann-‐Pick disease Type A Fanconi anemia group C Bloom Syndrome Gaucher disease

Ashkenazi Jewish

Red Flags

Interpreta:on

•  Missing informa;on vs. unaffected rela;ves •  Reliability of informa;on •  Non-‐tradi;onal families •  Unknown paternity •  Adop;on •  Cultural defini;ons of family •  Cultural biases •  Consanguinity •  Confiden;ality

Complica;ng factors in interpreta;on

Interpreta:on

Elici;ng and summarizing family history informa;on can:

ü Help the pa;ent understand the condi;on in ques;on

ü Clarify pa;ent misconcep;ons ü Demonstrate varia;on in disease expression (such as different ages at onset)

Opportuni;es for Pa;ent Educa;on


Interpreta:on

Elici;ng and summarizing family history informa;on can:

ü Provide a visual reminder of who in the family is at risk for the condi;on

ü Emphasize the need to obtain medical documenta;on on affected family members

Opportuni;es for Pa;ent Educa;on


1) Iden;fy where more specific informa;on is needed and obtain records

Interven:on

3) Know when to refer to gene;cs professionals

4) Encourage the pa;ent to talk to other family members

5) Update pedigree at subsequent visits

2) Assess general risks

Family health history tools and resources

Family health history tools and resources Surgeon General’s Family Health History Ini;a;ve

www.hhs.gov/familyhistory, familyhistory.hhs.gov

Family health history tools and resources AMA’s Gene;cs & Molecular Medicine: Family History

www.ama-‐assn.org/ama/pub/category/2380.html

Family health history tools and resources March of Dimes Gene;cs & Your Prac;ce

www.marchofdimes.com/gyponline

How to find a gene:cs professional 1. Na;onal Society of Gene;c Counselors

Find a counselor by loca;on, ins;tu;on, or specialty

www.nsgc.org

2. GeneClinics

www.geneclinics.org

A voluntary listing of U.S. and international

genetics clinics providing genetic evaluation and

genetic counseling

How to find a gene:cs professional

3. American College of Medical Gene;cs


www.acmg.org

4. American Society of Human Gene;cs


www.ashg.org

Gene;c Science Learning Center: www.learn.gene;cs.utah.edu How to find gene:cs informa:on

Disease InfoSearch: www.gene;calliance.org How to find condi:on-‐specific informa:on

Case Examples

Saundra’s Family

A new pa;ent, Saundra, states that many individuals in her family have had cancer,

especially colon cancer. She is certain that she is des;ned to develop cancer in the near future.

1)  Iden;fy specific rela;ves with colon or other cancers

4) Iden;fy the side (or sides) of the family on which cancer is present

Saundra’s Family

2) Iden;fy the ages at the diagnosis of cancer 3) Iden;fy family members who have not had cancer

How can taking Saundra’s family history help to assess her risk to develop colon cancer?

Colon cancer Lung cancer Melanoma

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?

45 yo 42 yo 39 yo 35 yo 52 yo 49 yo 46 yo 43 yo 49 yo 45 yo 37 yo

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

Saundra’s Family

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

How did you assess her risk?

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

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

Saundra’s Family

ò  Factors decreasing risk of gene;c basis to condi;on in first scenario •  Cancers common in general popula;on •  Affected rela;ves are older at diagnosis •  Cancer on both maternal and paternal sides

ñ  Factors increasing risk of gene;c basis to condi;on in second scenario •  Affected rela;ves are rela;vely young at diagnosis •  Mul;ple affected rela;ves concentrated on same side of family

Saundra’s Family

U;lity of family history tools: •  Collec:on Focus on diagnoses and ages, as well as affected and unaffected individuals

•  Interpreta:on Consider red flags: mul;ple affected family members, early age at onset

•  Implementa:on Assessment of risk alters recommended surveillance

Saundra’s Family

During a rou;ne visit, Toby men;ons 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

3) Iden;fy the presence or absence of risk factors in rela;ves with heart disease

1)  Iden;fy specific rela;ves with heart disease and associated complica;ons

2)  Iden;fy the ages at onset of disease

How can taking Toby’s family history help to assess his risk to develop heart disease?

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?

64 yo 61 yo 58 yo 55 yo 57 yo OB, HBP T2D, HC OB, T2D HBP, HC

HA, 55 yo

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

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?

Toby’s Family

ò  Factors decreasing risk of gene;c basis to condi;on in first scenario •  Affected family members have mul;ple risk factors, some of which are environmental

•  Affected rela;ves are older at diagnosis

ñ  Factors increasing risk of gene;c basis to condi;on in second scenario •  Affected rela;ves are rela;vely young at diagnosis •  Disease in the absence of risk factors

Toby’s Family

U;lity of family history tools: •  Collec:on Focus on diagnoses and ages at onset; also consider presence or absence of risk factors

•  Interpreta:on Consider red flags: mul;ple affected family members, early age at onset, disease in the absence of risk factors and in the less-‐omen-‐affected sex

•  Implementa:on Assessment of risk alters recommended tes;ng and health management

Toby’s Family

Maria (one month old) was born with a clem lip and palate (CL/P). CL/P is commonly isolated, but can also be a part of a number of different

inherited syndromes.

Maria’s Family

[  Determine recurrence risk for future children [  BeOer management of associated health problems

1)  Iden;fy whether features are present in other family members that are sugges;ve of a syndrome

2)  If features are present, iden;fy an inheritance paOern

How can taking Maria’s family history help assess whether her CL/P is isolated or syndromic?

Why is this helpful?

Maria’s Family

Cleft lip and palate

Do you think that there is a low, moderate, or high chance that Maria’s clem lip and palate is

due to an inherited condi;on?

How did you assess this chance?

5 yo 2 yo 3 yo 1 mo 13 yo 8 yo 6 yo asthma CL/P

31 yo 32 yo 29 yo 37 yo 33 yo anxiety high cholesterol

62 yo 57 yo 60 yo 59 yo heart attack, 59 yo “liver disease”

Maria’s Family

Isolated clem lip and/or palate:

•  1 in 1000 births (0.1%) •  Recurrence risks

– Maria’s sibling: 2%-‐8% – Maria’s child: 4%-‐6%

Maria’s Family

5 yo 2 yo 3 yo 1 mo 13 yo 8 yo 6 yo asthma CL/P heart defect

nasal speech

31 yo 32 yo 29 yo 37 yo 33 yo Anxiety LD hearing loss

nasal speech

62 yo 57 yo 60 yo 59 yo heart attack, 59 yo CL/P, LD

Cleft lip and/or palate

LD= Learning difficulties Nasal speech Heart defect Hearing loss

Do you think that there is a low, moderate, or high chance that Maria’s clem lip and palate is

due to an inherited condi;on? How did you assess this chance?

Maria’s Family

22q Dele;on syndrome: •  Dele;on of submicroscopic dele;on of ch. 22q •  Inheritance: autosomal dominant •  Recurrence risks:

–  Maria’s sibling: 50% –  Maria’s children: 50%

•  Primary features: Congenital heart defects Immune deficiency Clem lip and palate Hypocalcemia Learning difficul;es Characteris;c facies

Maria’s Family

ò  Factors decreasing risk of inherited syndrome in first scenario •  Presence of non-‐specific health condi;ons common in the

general popula;on •  Features on both maternal and paternal sides •  No clear inheritance paOern or family clustering

ñ  Factors increasing risk of inherited syndrome in second scenario •  Clustering of poten;ally related features •  Several gene;c red flags are present •  Clear autosomal dominant inheritance

Maria’s Family

U;lity of family history tools: •  Collec:on Specifically ask about features that are omen seen in syndromes associated with CL/P

•  Interpreta:on Consider red flags: mul;ple affected family members, early age at onset, developmental delays, one or more major malforma;on

•  Implementa:on Presence of a syndrome can alter recurrence risks and health management for the pa;ent and family members

Maria’s Family

Anne and Geoff want to start a family. Following ACOG guidelines, Anne’s physician makes cys;c fibrosis (CF) carrier screening

available to all her pa;ents, and recommends screening to her pa;ents 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.

Anne and Geoff

1)  Iden;fy whether CF is present in the family 2)  Determine whether Anne or Geoff are of ancestries

for which CF carrier screening is recommended 3) Iden;fy other family members who may consider

carrier tes;ng

How can Anne and Geoff’s family histories help the physician decide whether to recommend CF carrier tes;ng

or simply make it available to Anne and Geoff?

Anne and Geoff

Cys;c Fibrosis: •  Mul;system disease

–  Pulmonary: accumula;on of mucus –  Diges;ve: malnutri;on and cons;pa;on –  Reproduc;ve: bilateral absence of vas deferens (infer;lity)

•  Inheritance: autosomal recessive •  Average life span: young adulthood

Anne and Geoff

Do you think that there is a low, moderate, or high chance that either Geoff or Anne are

carriers of a CF muta;on?


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

Anne and Geoff

56 yo 57 yo 59 yo 57 yo high BP (early 40s) diabetes blood clot- leg (54 yo)

(mid 40’s)

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)

Northern European, Russian Northern European

Cystic Fibrosis

Do you think that there is a low, moderate, or high chance that either Geoff or Anne are

carriers of a CF muta;on?


Anne and Geoff

ò Factors decreasing risk of being a CF carrier in first scenario •  Anne’s ancestry has a lower carrier frequency •  No family history

ñ Factors increasing risk of being a CF carrier in second scenario •  Both Anne and Geoff are of Northern European ancestry

•  Posi;ve family history: Anne’s nephew (second-‐degree rela;ve) has CF

Anne and Geoff

U;lity of family history tools: •  Collec:on Elicit ancestry of biological grandparents, relevant health informa;on

•  Interpreta:on Consider red flags: known family history, ethnic predisposi;on, autosomal recessive inheritance

•  Implementa:on Assessment of risk determines whether carrier tes;ng is offered; may also consider prenatal tes;ng, pregnancy surveillance, or prepara;on for CF management

Anne and Geoff

•  Professional Associa;ons –  Con;nuing Medical Educa;on –  Presenta;ons and posters

•  Core Competencies –  Na;onal Coali;on for Health Professional Educa;on in Gene;cs (NCHPEG)

•  Online Resources –  Gene;cs & Your Prac;ce (March of Dimes)

•  Publica;ons –  In Prac;ce NewsleOer (NCHPEG) –  State Health NewsleOers –  Scien;fic Papers

Addi:onal training

What opportuni;es exist to support the use of family health history (yx)?

•  Overcoming the “;me” issue •  Building skills in collec;ng and analyzing yx •  Keeping yx easily available & current •  Using yx to develop risk assessment & care plans •  Linking with local gene;c professionals •  Reimbursement for yx

Within your prac:ce…

Acknowledgments This project is supported by grant HHSH250201000035C from the Maternal and Child Health Bureau, Health Resources and Services Administra;on. This presenta;on was adapted from the “Core Principles in Family History for All Health Professionals,” funded by the Audrey Heimler Special Projects Grant of the Na;onal Society of Gene;c Counselors and the Na;onal Human Genome Research Ins;tute. See www.nchpeg.org for more informa;on. Special thanks to: • Claudia Petruccio • Cynthia A. Prows, MSN, CNS, FAAN • Joan ScoO, MS, CGC

Chromosomal disorders •  Extra/missing chromosomes •  Large-‐scale dele;ons or

duplica;ons •  Transloca;ons

Mul:factorial disorders •  Mul;ple gene;c and

environmental factors

Single-‐gene disorders •  Autosomal Dominant •  Autosomal Recessive •  X-‐Linked

Mitochondrial disorders •  Characterized by maternal

transmission •  Usually neurological or

neuromuscular symptoms

Interpreta:on 1) Recognize basic inheritance paOerns:

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