• Home

  • Documents

  • The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University...
61
The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Tags:

Embed Size (px)

Citation preview

Page 1: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

The Primary Care Physician:The Primary Source

of Genetic Testing Information

Copyright University of Washington 2007

Page 2: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Imagine this…

Dr. Step is wrapping up the summer camp physical for his 10 year-old patient, Jay. He has addressed Jay’s

Warts Emerging myopia Safety counseling

Time is up.

Jay’s mother, Lisa, stands up to leave and says, “By the way, my husband, Tim, has just been diagnosed with colon cancer, and his doctors are calling it familial adenomatous polyposis. I heard there is a genetic test for FAP. Should Jay be tested?”

Page 3: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Genetic Counseling

• What is FAP and what causes it?

• Who else in the family could get FAP?

• Should we be tested for FAP?

• How can we cope with FAP?

Page 4: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

• What kind of genetic test is it?

• How would the genetic test be used?

• Where can I find a lab that does the test?

• What is involved in ordering this genetic test?

• How can I answer all the questions that the

family has?

Genetic Testing

Page 5: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Where is Lisa going to go for an answer?

71% of American adults say they would most

likely ask their primary care physician about a

genetic disorder present in their family.

Genetic Testing: A study of consumer attitude AMA March 1998

Page 6: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Where is Dr. Step going to gofor answers?

A text book? Out of date

A journal? Highly focused

A colleague? Expertise varies

A Web site?

Page 7: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

www.genetests.org

FUNDED BYNational Institutes of HealthContract No. N01-LM-3503

SPONSORING INSTITUTIONUniversity of WashingtonSeattle, WA

Page 8: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 9: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

GeneReviews

• Genetic disease descriptions• >380 Reviews (April 2007)• One new Review added each week

• Expert-authored, peer-reviewed

• Current information on genetic test use in diagnosis, management, genetic counseling

• Links to genomic databases, patient resources, PubMed citations, policy statements/guidelines

Page 10: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

International Laboratory Directory

615 Clinical and research laboratories 1370 Inherited diseases

• 1080 clinical tests• ~290 research only

Page 11: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Genetics and prenatal diagnosis clinics

• United States: ~ 1000 clinics

• International: ~ 100 clinics

Page 12: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Educational Materials

• Genetic counseling and testing concepts

• PowerPoint slide show presentations on genetic testing resources

• Illustrated Glossary of >220 terms

• Links to GeneticTools, a curriculum for teachers of primary care physicians

Page 13: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

What is FAP and what causes it?

Who else in the family could get FAP?

Should we be tested for FAP?

How can we cope with FAP?

Genetic Counseling

Page 14: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 15: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

FAP

Page 16: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 17: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 18: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Summary

Diagnosis

Clinical Description

Differential Diagnosis

Management

Genetic Counseling

Molecular Genetics

Resources

References

Page 19: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

ACP-Associated Polyposis Conditions

Summary

Disease description• Colon cancer syndrome• Polyps develop 7-36 years• Colon cancer at 34-43 years

Diagnosis/testing

• Caused by mutations in APC• 95% of patients have identifiable APC mutations

Genetic counseling• Autosomal dominant

Page 20: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Clinical Description

• Colorectal adenomatous polyps: average 16 years

• Colon cancer: average 39 years

• Other features: osteomas, dental abnormalities, desmoid tumors

• Extra-colonic cancers (small bowel, stomach, pancreas thyroid, CNS, liver, bile ducts)

ACP-Associated Polyposis Conditions

Page 21: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

What is FAP and what causes it?

Who else in the family could get FAP?

Should we be tested for FAP?

How can we cope with FAP?

Genetic Counseling

Page 22: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Genetic Counseling

Mode of Inheritance

• Autosomal dominant

Risk to Family Members

Parents of a proband.

• 75-80% of probands have an affected parent • 20-25% have a de novo mutation

Sibs of a proband. • If a parent has FAP, risk is 50% • If neither parent has FAP, risk is low

Offspring of a proband.

• 50% risk

ACP-Associated Polyposis Conditions

Page 23: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

What is FAP and what causes it?

Who else in the family could get FAP?

Should we be tested for FAP?

How can we cope with FAP?

Genetic Counseling

Page 24: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Genetic Testing

What kind of genetic test is it? How would the genetic test be used? Where can I find a lab that does the test? What is involved in ordering this genetic test? How can I answer all the questions that the

family has?

Page 25: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Cytogenetic

DNA

Metabolic

Types of Genetic Tests

Page 26: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Test Method Mutation Detection Rate Test Availability

Sequence analysis up to 90%

Mutation scanning and protein truncation ~80-~90% Clinicaltesting (PTT)

Protein truncation ~80%testing (PTT)

Duplication/deletion ~8-12%analysis

Molecular Genetic Testing

Direct DNA tests

Linkage

If no mutation is detected, linkage testing can be considered in families with more than one affected member.

ACP-Associated Polyposis Conditions

Page 27: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

mutation scanning

Page 28: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

de novo mutation

Page 29: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Genetic Testing

What kind of genetic test is it? How would the genetic test be used? How is the genetic test applied in this situation? What is involved in ordering this genetic test? How can I answer all the questions that the family has?

Page 30: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Diagnostic

Predictive

Carrier

Prenatal

Screening

Uses of Genetic Testing

Page 31: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

FAP50% risk

10 y

39 y

Jay

LisaTim

Page 32: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Uses of Genetic Testing

Diagnostic

Predictive

Carrier

Prenatal

Screening

Page 33: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Management

Molecular genetic testing: By age 10-12 years

Surveillance: Persons with an APC mutation or at-risk for FAP who have not undergone molecular genetic testing:

• Annual sigmoidoscopy beginning at age 10-12 years

Colectomy: When polyps appear

ACP-Associated Polyposis Conditions

Page 34: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Management

Surveillance: Family members who have not inherited the disease-causing mutation:

• Routine colon cancer screening beginning at age 50 years

ACP-Associated Polyposis Conditions

Page 35: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Testing Strategy

Test Tim

Mutation detected• Direct testing useful• Proceed with testing family

• Direct testing not useful • Do not proceed with testing family

No mutation detected STOP

Page 36: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Genetic Testing

What kind of genetic test is it? How would the genetic test be used? Where can I find a lab that does the test? What is involved in ordering this genetic test? How can I answer all the questions that the

family has?

Page 37: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

FAP

Page 38: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Hierarchical Search Result

Page 39: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 40: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 41: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Genetic Testing

What kind of genetic test is it? How would the genetic test be used? Where can I find a lab that does the test? What is involved in ordering this genetic test? How can I answer all the questions that the

family has?

Page 42: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Ordering Genetic Testing

Genetic tests may be ordered by any physician.

• Choosing a laboratory• Pretest counseling and informed consent• Sample logistics and supporting documentation• Test result interpretation and follow-up

Page 43: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Genetic Testing

What kind of genetic test is it? How would the genetic test be used? Where can I find a lab that does the test? What is involved in ordering this genetic test? How can I answer all the questions that

the family has?

Page 44: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

FAPJay10 y

39 y 33 y 28 y

d. 35 y MVA

63 y

Indeterminant risk

50% risk

Amy6 y

Sarah14 y

Tim Lisa

Page 45: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Genetics Consultation

A genetics consultation involves care of an individual or family to: Providing or arranging for psychosocial support

• Confirm, diagnose or rule out a genetic condition

• Identify / arrange for medical management

• Calculate and communicate genetic risks

• Provide or arrange psychosocial support

Page 46: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Medical Geneticists (MD, PhD)Certified by: American Board of Medical Genetics

Genetic Counselors (MS)Certified by: American Board of Genetic Counseling

and/or American Board of Medical Genetics

Genetics Professionals

Page 47: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Testing Strategy

Test Tim

Mutation detected• Direct testing useful• Proceed with

• genetic counseling• genetic testing of all at-risk relatives• surveillance of mutation-positive relatives only

Page 48: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Testing Strategy

Test Tim

• Direct testing not useful • Proceed with

No mutation detected STOP

• genetic counseling• surveillance of all at-risk relatives

Page 49: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

FAPJay10 y

39 y 33 y 28 y

d. 35 y MVA

63 y

Indeterminant risk

Amy6 y

Sarah14 y

50% risk

Tim Lisa

AK MI TX

CA TN

Page 50: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 51: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 52: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Clinic Search Result

Page 53: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

What is FAP and what causes it?

Who else in the family could get FAP?

Should we be tested for FAP?

How can we cope with FAP?

Genetic Counseling

Page 54: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 55: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 56: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 57: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 58: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 59: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007
Page 60: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Genetics Professional Patient

Primary Care Provider

Genetic Counseling and Testing

Page 61: The Primary Care Physician: The Primary Source of Genetic Testing Information Copyright University of Washington 2007

Roberta A Pagon, MD

Thomas D Bird, MD Cynthia R Dolan, MS Gerald L Feldman, MD, PhDRichard JH Smith, MD, PhDKaren Stephens, PhD

Suzanne B Cassidy, MDMary Beth P Dinulos, MD

Monica Smersh

Miriam Espeseth, MA

Carla Gifford

Editor-in-Chief

Associate Editors

Assistant Editors

Managing Editor

Online ProductionEditor

Editorial Assistant

Genetic Counselors

Laboratory DirectoryCoordinator

Clinic Directory Coordinator

Cynthia R Dolan, MSRoberta Spiro, MA

Gina McCullough Grohs

Aliya Hashemi

Database Administrator

SystemsAdministrator

Sergey Mikhaylov, MS

Brad Willson

Staff

GeneReviews

Principal Investigator Roberta A Pagon, MD

Directories

Technical Support

Resources

Resources Liaison Kathi Marymee, MS


Primary care clinics-managing physician patient panels

Primary care clinics-managing physician patient panels

Healthcare
(The Critical role of Primary Care Physician) Preconceptional care (PCC) (The Critical role of Primary Care Physician) PO Box 27121 – Riyadh 11417 Tel:

(The Critical role of Primary Care Physician) Preconceptional care (PCC) (The Critical role of Primary Care Physician) PO Box 27121 – Riyadh 11417 Tel:

Documents
Neonatal Hematology for the Primary Care Physician

Neonatal Hematology for the Primary Care Physician

Documents
Primary care physician time utilization before and after

Primary care physician time utilization before and after

Documents
Primary Care Physician Assistant Program Course Equivalencies

Primary Care Physician Assistant Program Course Equivalencies

Documents
Primary Care Physician Practice Styles and Patient Care ...pages.ucsd.edu/~yfadlon/pdfs/PCP_Exits.pdfDec 30, 2019  · Primary Care Physician Practice Styles and Patient Care: Evidence

Primary Care Physician Practice Styles and Patient Care ...pages.ucsd.edu/~yfadlon/pdfs/PCP_Exits.pdfDec 30, 2019  · Primary Care Physician Practice Styles and Patient Care: Evidence

Documents
2012 Washington State Primary Care Physician Assistant ... · The 2012 Washington State Primary Care Physician Assistant 3Survey. was designed to be a census of all licensed physician

2012 Washington State Primary Care Physician Assistant ... · The 2012 Washington State Primary Care Physician Assistant 3Survey. was designed to be a census of all licensed physician

Documents
Ophthalmology for the Primary Care Physician

Ophthalmology for the Primary Care Physician

Documents
Independent Health’s Medicare Advantage Physician/Provider ... · P - Primary Care Physician S - Specialist * - Primary Care Physician Accepting pre-existing patients only # - Board

Independent Health’s Medicare Advantage Physician/Provider ... · P - Primary Care Physician S - Specialist * - Primary Care Physician Accepting pre-existing patients only # - Board

Documents
Chapter Title: Managing Physician Panels in Primary …people.umass.edu/hbalasub/BookChapterWebCopyBalasubramanianetal.pdfChapter Title: Managing Physician Panels in Primary Care

Chapter Title: Managing Physician Panels in Primary …people.umass.edu/hbalasub/BookChapterWebCopyBalasubramanianetal.pdfChapter Title: Managing Physician Panels in Primary Care

Documents
Primary Care Physician Supply, Physician Compensation, and

Primary Care Physician Supply, Physician Compensation, and

Documents
Primary Care Physician Scan in Georgia: 2014

Primary Care Physician Scan in Georgia: 2014

Documents
Hyperlipidemia for the primary care physician

Hyperlipidemia for the primary care physician

Documents
An Analysis of the Primary Care Physician Shortage …...physician shortage of greater than 90,000 doctors. Of this 90,000, roughly half will be primary care physicians (“Physician

An Analysis of the Primary Care Physician Shortage …...physician shortage of greater than 90,000 doctors. Of this 90,000, roughly half will be primary care physicians (“Physician

Documents
Peripheral Neuropathy for the Primary Physician Neuropathy for the Primary Physician Justin Meuse Neurology Chief Resident Portland VA Medical Center

Peripheral Neuropathy for the Primary Physician Neuropathy for the Primary Physician Justin Meuse Neurology Chief Resident Portland VA Medical Center

Documents
Open Access Research Early primary care physician contact

Open Access Research Early primary care physician contact

Documents
Primary Care Physician Compensation: Blended Capitation Modelarppss.albertadoctors.org/uploads/source/Blended_Capitation_Model... · Any primary care physician compensation model

Primary Care Physician Compensation: Blended Capitation Modelarppss.albertadoctors.org/uploads/source/Blended_Capitation_Model... · Any primary care physician compensation model

Documents
Primary Care Physician-Nurse Practitioner Collaboration

Primary Care Physician-Nurse Practitioner Collaboration

Documents
Peripheral Neuropathy for the Primary Physician · Peripheral Neuropathy for the Primary Physician ... Peripheral Neuropathy for the Primary Physician ... numbness in her hands and

Peripheral Neuropathy for the Primary Physician · Peripheral Neuropathy for the Primary Physician ... Peripheral Neuropathy for the Primary Physician ... numbness in her hands and

Documents
How Much Will Medicaid Physician Fees for Primary Care ... 3 How Much Will Medicaid Physician Fees for Primary Care Rise in 2013? Evidence from a 2012 Survey of Medicaid Physician

How Much Will Medicaid Physician Fees for Primary Care ... 3 How Much Will Medicaid Physician Fees for Primary Care Rise in 2013? Evidence from a 2012 Survey of Medicaid Physician

Documents
Sports Medicine for the Primary Care Physician

Sports Medicine for the Primary Care Physician

Documents
Dna as Primary Genetic Material

Dna as Primary Genetic Material

Documents
Primary Care Physician Compensation Model

Primary Care Physician Compensation Model

Documents
Primary Care Non-physician Clinicians in Delaware …dhss.delaware.gov/dhss/dph/hsm/files/pcnpcinde1998.pdfPrimary Care Non-physician Clinicians in Delaware 1998 ... Primary Care Non-physician

Primary Care Non-physician Clinicians in Delaware …dhss.delaware.gov/dhss/dph/hsm/files/pcnpcinde1998.pdfPrimary Care Non-physician Clinicians in Delaware 1998 ... Primary Care Non-physician

Documents
PRIMARY HEALTH PHYSICIAN /FAMILY DOCTOR AND PUBLIC HEALTH

PRIMARY HEALTH PHYSICIAN /FAMILY DOCTOR AND PUBLIC HEALTH

Documents
DRAFT: Primary Care Physician and Physician Assistant

DRAFT: Primary Care Physician and Physician Assistant

Documents
Primary Care Physician Supply, Physician Compensation, and ... · 11/3/2008  · Why does compensation across physician specialties vary so widely? Can Medicare physician fee changes

Primary Care Physician Supply, Physician Compensation, and ... · 11/3/2008  · Why does compensation across physician specialties vary so widely? Can Medicare physician fee changes

Documents
Primary Care and Genetic Testing

Primary Care and Genetic Testing

Health & Medicine
Primary care physician associates

Primary care physician associates

Documents
GenetiKit Workshop Given by: Dr. Sean Blaine, Family Physician Dr. June Carroll, Family Physician Clare Gibbons, Genetic Counsellor Cathy Gilpin, Genetic

GenetiKit Workshop Given by: Dr. Sean Blaine, Family Physician Dr. June Carroll, Family Physician Clare Gibbons, Genetic Counsellor Cathy Gilpin, Genetic

Documents