Communicating with Families about Family History and Genetics
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1 Communicating with Families about Family History and Genetics Abdallah F. Elias, M.D. Providence Genetics Clinic at Grant Creek & Florence Family Practice Department of Biomedical and Pharmaceutical Sciences University of Montana Missoula, MT Ingrid A. Larson BA, MSN, MBA, RN, APRN, CPNP Children s Mercy Hospital, Pediatric Care Center Kansas City, MO
2 Disclosures Elias: I have the following financial relationships with the manufacturers(s) of any commercial products(s) and/or provider of commercial services discussed in this CME activity: Consultant for National Coalition for Health Professional Education in Genetics. I do not intend to discuss an unapproved/investigative use of a commercial product/device in our presentation. Larson: I have no relevant financial relationships with the manufacturers(s) of any commercial products(s) and/or provider of commercial services discussed in this CME activity. I do not intend to discuss an unapproved/investigative use of a commercial product/device in my presentation
3 Introducing family history to parents Family history is personal giving the parents notice allows them to prepare for what are often intimate questions. Example: I would like to ask you some questions about your health and about the health of your family members. Having this information will help to provide the best care for your child.
4 Choosing the right language 1. Avoid jargon without explanation Muta ons changes, altera ons 2. Avoid negative labels Birth defect Congenital disability Abnormal Not working properly Defec ve Altered Retarda on Intellectual disability/impairment Disorder Condi on 3. Begin with open instead of directive questions Your parents/brothers and sisters are all healthy? Do your parents/brothers and sisters have any health problems?
5 Pedigree structure 1. Clarify biological relatedness Are all your children with the same partner? Which of your siblings have the same father/mother? 2. Clarify relationships Family members may have adopted relatives Confirm correct kinship definition: Example first cousin second cousin first cousin once removed (see next slide) 3. Recognize pertinent negatives Lack of offspring due to infertility (CF, Fragile X) Lack of male offspring in certain X linked disorders
6 Correct documentation of cousins From Wikipedia:
7 Discussing aspects of family history 1. Avoid positive, negative, uneventful 2. For a known genetic condition within family: I understand that you have a family history of. What do you know about this condition? Have you had a genetic evaluation for this condition? Do you know if you are a carrier for this condition? This is a genetic condition which can be inherited from parents. In order to determine if your child is at risk I would suggest we seek advice from a medical geneticist.
8 Discussing a known genetic condition 1. What do you know about this condition? 2. How was this condition diagnosed? 3. Did you child have genetic testing? 4. Has your child been seen by a medical geneticist? 5. How has this affected your family? 6. What questions do you have about this condition? 7. Would you be interested in seeing a medical geneticist for your child?
9 What to tell patients about genetics? What is genetics? Explain genetic material and inheritance in plain language (DNA, chromosomes, XY, carrier status) Explain that many conditions are passed on by parents to children due to changes in genetic material or DNA If a condition is suspected to be genetic, we often look for a cause using family history and genetic testing. If we find the genetic change then we often can give more information about the condition in terms of progression and it can have implications for the rest of the family.
10 What to tell patients about a genetics consultation? 1. What is a genetics consultation? Health service provided by a genetics professional that includes evaluation of individuals who have, or might be at risk, for a genetic condition. During a genetics consultation, patients are also provided with information and support for genetic disorders. Genetics professionals include medical geneticists (doctors who specialize in genetics) and genetic counselors (certified healthcare workers with experience in medical genetics and counseling). Nurses and nurse practitioners with experience in genetics may also be involved in clinic.
11 What to tell patients about a genetics consultation? 2. What happens during a genetics consultation? A genetics professional will meet with the family to obtain a comprehensive history including a prenatal, medical, family, and developmental history. The visit may include a comprehensive physical examination. Further testing may be recommended. If a genetic condition is diagnosed the genetics professional will explain the diagnosis, how the condition is inherited, the chance of passing the condition on, and the options for testing and treatment.
12 What is genetic testing? Genetic testing identifies changes in chromosomes, genes, or proteins to confirm or rule out a genetic condition or help determine a person s risk of developing or passing on a genetic disorder. The tests are often performed on blood, but sometimes involve urine or skin biopsies. A genetics professional should help interpreting the genetic test results and counseling regarding the implications for the individual and the family.
13 Case 1 for role play 1. Family history as diagnostic clue for a genetic condition Child with unknown diagnosis Six year old boy with developmental delay and hyperactivity Family History reveals: Mother with mild learning disabilities Maternal aunt with premature ovarian failure Maternal grandfather with Parkinsonism
14 Communication Strategies What questions might you ask? How might you discuss the findings on family history? How might you broach the topic that you think this might be genetic? How would you discuss the referral to genetics and subsequent consultation?
15 Case 2 for role play 2. Communication with families about genetic disorders: Adolescent with NF 1 diagnosed in childhood who has been lost to follow up Circumstances of diagnosis unclear Never had health supervision Family does not know much about condition
16 Communication Strategies What questions might you ask? How might you discuss NF 1? Resources? How might you assess the family s current understanding of NF1 and the genetic component? How would you discuss the referral to genetics and subsequent consultation? Would you discuss clinical guidelines for supervision?
17 References 1. What happens during a genetic consultation? Genetics Home Reference. Online at 2. Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals. Online at 3. Genetic testing. Genetics Home Reference. Online at 4. Bennet, R.L. The Practical Guide to Family History, 2nd ed., Wiley Blackwell 5. Trotter TL, Martin HM. Pediatrics Sep;120 Suppl 2:S60 5. Family history in pediatric primary care
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