My Life, Our Future
Genetic Counseling Guidelines
These guidelines are intended to support adequate pre- and post-test genetic counseling of patients
with a personal or family history of hemophilia. Each check box topic should be addressed in some
degree; however, the level of detail appropriate for each topic may be determined on a case-by-case
basis.
PRE-TEST
 Establish rapport
 Elicit individual’s understanding/expectations of genetic counseling
 Review purpose of the meeting today
o Obtain medical and family history
o Discuss underlying genetics and testing options
o Support decision making
 Obtain/update and interpret medical and family history
 Obtain or update individual’s medical history including:
o Age of diagnosis
o Factor level(s)
o Bleeding history
o Treatment(s)
o History of inhibitor development
 Obtain or update pedigree including:
o At least 3 generations of relatives
o The following information is important to note for each relative:
 Date of birth (or current age)
 Affected or unaffected status
 Age at diagnosis, if applicable
 Living or deceased
 Cause of death, if applicable (Be sure to note sudden or early onset deaths and
related cause.)
 Any bleeding symptoms, including:
 Spontaneous bleeding, prolonged bleeding with trauma, surgical complications,
easy bruising, menorrhagia, childbirth complications, etc.
 Previous genetic testing, including:
 When, type, where, and request to obtain a copy of results for review
 Identify at-risk family members including:
o Potential undiagnosed individuals with hemophilia
These guidelines were developed by NHF’s Genetics Working Group for My Life, Our Future.
v. 4/9/13
1
o Obligate carriers
o Individuals who are at-risk to be carriers (based on family history or reported symptoms)
 Assess family social dynamics that may impact future communication
 Review information about genetics
 General genetic concepts
 Specific information about the genetics of the diagnosis in the family, including inheritance
pattern
 Discuss the methods and process of genetic testing
 Test is most informative if started in an affected individual
 What is being tested?
o Factor 8 and/or factor 9 gene(s) only
 How is it being testing?
o Looking for mutations in the gene(s)
o Test method: site specific (common mutation or family mutation) vs. sequencing vs.
deletion/duplication
o Test strategy: sequential vs. non-sequential
 Potential results
o Mutation identified
o Mutation not identified (informative negative vs. uninformative negative?)
o Variant of uncertain significance
 Benefits, risks and limitations of testing
 Testing facility
 Logistics of blood draw (when, where, how much?)
 Costs
 Turnaround time
 What report will look like
 Discuss what test can and cannot determine
 For all individuals:
o Only looking at the F8 and/or F9 gene(s)
o Not assessing for other genetic diagnoses (i.e. sickle cell, Huntington’s) or genetic health
risks (i.e. heart disease, cancer)
 For males with hemophilia:
o Hemophilia genotype
o Hemophilia phenotype
 Severity (mutation type may predict severe vs. moderate vs. mild)
 Inhibitor (mutation type may predict an increased risk, but not specific risk)
o May help to confirming diagnosis (i.e. Hemophilia A vs. VWD2N)
o Allows for more specific, accurate genetic testing for at-risk relatives
These guidelines were developed by NHF’s Genetics Working Group for My Life, Our Future.
v. 4/9/13
2

For obligate or at-risk carriers:
o Definitively determines carrier status if family mutation known
o May or may not identify mutation if family mutation unknown
 Discuss what individuals can do with this information once it is known
 For all individuals:
o Allows for accurate risk assessment for family members
o Based on risk assessment, consideration of reproductive planning options, including:
 No changes to reproductive planning – accept associated risks and plan accordingly
for delivery
 Prenatal testing – most reliable if familial mutation is known, must be done in
approved center
- Chorionic Villus Sampling
- Amniocentesis
 Pre-implantation Genetic Diagnosis (PGD)
 Sperm, egg or embryo donation
 Adoption (in or out)
 For males with hemophilia:
o Allows for discussion with physician about potential impact of genotype on management
o Allows for more specific, accurate testing options in at-risk family members
 For obligate or at-risk carriers:
o Implications for most appropriate management of carrier women during surgery, child
birth, and other high-risk situations
o Allows care to be coordinated with other physicians (i.e. OB, surgeon, etc.)
 Elicit the individual’s desire for the information and how he/she plan to use it?
 Personal management or decisions regarding care?
 Reproductive choices for the individual/family?
 Share information with family members for their personal use?
 Describe the My Life, Our Future project
 Disclose members of partnership and their roles
o National Hemophilia Foundation (NHF) – organizing and educating the community around
this initiative
o Puget Sound Blood Center – providing confidential genetic testing and secure data
transfer
o American Thrombosis and Hemostasis Network (ATHN) – collection and secure storage of
information
o Biogen Idec Hemophilia – providing financial support and leadership
 Clinical goal:
o To provide genotyping to all individuals with hemophilia
These guidelines were developed by NHF’s Genetics Working Group for My Life, Our Future.
v. 4/9/13
3

Research goals:
o To better understand the role specific genotypes play in an individual’s disease course
o To store information and specimen for use in future hemophilia research, in hopes of
personalizing management/treatment
 Assess individual’s level of concern regarding genetic discrimination/ study confidentiality
 If concern exists:
o Review policies such as GINA
o Review steps in place to ensure protection of study participants
 Determine the individual’s decision regarding genotyping
 Pursue vs. decline
 If undecided, discuss his/her feelings, thoughts, etc. to support in reaching the best decision
for him/her
 Determine a plan for results disclosure (if testing is pursued)
 Determine if it will be in person or by phone
 Things to consider:
o Distance to center or person providing results disclosure
o Level of understanding of information
o Familiarity with testing process (i.e. first person in family to be tested vs. established
family with multiple siblings tested)
o Current diagnosis state
 If diagnosis is unknown (i.e. at-risk carrier female, male with hemophilia A vs. von
Willebrand 2N), in person results may be more valuable, when possible
 If diagnosis is known (i.e. male with hemophilia, obligate carrier), in person results
may be less valuable
 Establish a follow-up “appointment time” so the individual knows when to expect results
disclosure, regardless of the results
 Ask if individual would like any written materials or resources
 National Hemophilia Foundation website(www.hemophilia.org)
 National Society of Genetic Counselors website (www.nsgc.org)
 Genetics Home Reference website (www.ghr.nlm.nih.gov)
 World Federation of Hemophilia website (http://www.wfh.org)
 My Life, Our Future website (www.mylifeourfuture.org)
 My Life, Our Future educational tools
 HTC Regional Tools
 Other informational handouts
 Local resources (OBs, IVF, etc.)
These guidelines were developed by NHF’s Genetics Working Group for My Life, Our Future.
v. 4/9/13
4
POST-TEST
 Disclose results
 Should be done by the same individual who did pre-test counseling
 Stick with the original plan, including predetermined time and location/method
 Review the result
 Explain what it means for the individual’s personal risk
o Confirms hemophilia diagnosis vs. carrier vs. not carrier vs. uncertain
 Explain what it means for other family members’ risks
o Who else is at-risk or not at-risk based on these test results (i.e. siblings?, children?)
 Assess and discuss psychosocial impact of results
 Surprising or not surprising?
 Concerning or not concerning?
 Other feelings experienced?
 Review utility of test result (dependent on individual and his/her level of interest)
 For all individuals:
o Share information with relatives
o Consider reproductive planning options, including:
 No changes to reproductive planning – accept associated risks and plan accordingly
for delivery
 Prenatal testing – most reliable if familial mutation is known, must be done in
approved center
- Chorionic Villus Sampling
- Amniocentesis
 Pre-implantation Genetic Diagnosis (PGD)
 Sperm, egg or embryo donation
 Adoption (in or out)
 For males with hemophilia:
o Discussion with physician about potential impact of genotype on management
 For obligate or at-risk carriers:
o Implications for most appropriate management of carrier women during surgery, child
birth, and other high-risk situations
o Allows care to be coordinated with other physicians (i.e. OB, surgeon, etc.)
 Discuss how these results may impact their decisions moving forward
 Does this change/not change management in any way?
 Who do they plan to share these results with?
o Review benefit that this could have for relatives
o Reiterate ways to share results with family members
These guidelines were developed by NHF’s Genetics Working Group for My Life, Our Future.
v. 4/9/13
5

Provide a copy of test result to relative(s)
 Consent to having test results shared and then provide relative(s) with contact
information for accessing the results
o Discuss options for sharing this information with family members
 One-on-one with each relative vs. group of relatives
 In-person vs. phone vs. family letter
 Identify whether patient would benefit from receiving resources/referrals
 Discuss available resources
o National Hemophilia Foundation website(www.hemophilia.org)
o National Society of Genetic Counselors website (www.nsgc.org)
o Genetics Home Reference website (www.ghr.nlm.nih.gov)
o World Federation of Hemophilia website (http://www.wfh.org)
o My Life, Our Future website (www.mylifeourfuture.org)
o My Life, Our Future educational tools
o HTC Regional Tools
o Other informational handouts
o Local resources (OBs, IVF, etc.)
 Discuss appropriate referrals
o Social worker?
o Clergy?
o Other counseling provider?
 Offer a copy of the test results for their records
 Determine if they would like a copy of the test results to be shared with any other health care
provider
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These guidelines were developed by NHF’s Genetics Working Group for My Life, Our Future.
v. 4/9/13
6