PATIENT CONCERNS & GENETIC TESTING Theresa Boomer, MS, CG/MB(ASCP)CM, CGC Genetic Counselor

“It’s like this, Mrs.. Cameron: The Results are negative, but that doesn’t mean not positive, exactly. Nor is it not negative, we wouldn’t want a double negative there, would we … “

Uses of Genetic Testing Diagnostic Predictive Carrier Prenatal Newborn Screening

Unique Challenges and Concerns Rapid changes and advances NIPT Complex information Patients & providers Emotionally charged Blogs and Message Boards Discrimination Concerns Family involvement Expense

Non-Directive Support & Guidance

What is genetic counseling? Non-Directive Educational and interactive, lots of Q & A Risk assessment & Calculations Personal and family medical history Discuss inheritance, testing, management, prevention, resources and research Decide who, if anyone, is appropriate for genetic testing Assist with confirming, diagnosing or ruling out a genetic condition Providing or arranging for psychosocial support and medical management Discuss various outcome scenarios Offer interpretation, support and guidance once testing is completed

Incidence of Genetic disorders Individually rare, collectively common Virtually all diseases have a genetic component >6000 single gene conditions 7 of 1,000 live born infants have a chromosome disorder 46 of 1000 have a multifactorial disorder (CL/CP) 3-5% risk for every pregnancy for a birth defect Account for one third of pediatric hospital admissions Major cause of mental retardation Every person carries 8-10 mutant genes

Ethical Issues in Genetic Testing Just because we have the technology doesn’t always mean we are ready to use it wisely.

Duty to Warn Dad was recently diagnosed with FAP. They wish to test their 2 year old daughter vs. yearly colonoscopies starting at age 11. They will remove most of her colon if positive. What if….. They also are interested in prenatally testing future pregnancies for the gene. Dad’s mom died of colon cancer in her 40’s. He has an estranged brother with 2 sons whom he does not plan to contact and inform.

Insurance Discrimination FMTC has ran in the family for several generations, and the family just learned the young son inherited the mutation. They plan to remove his thyroid within the year. What if… Prior to testing, they took out a life insurance policy on the baby, for fear he will be uninsurable in the future. The father fears ever leaving his current job and medical insurance plan, despite the fact that the boy is and should remain cancer free with intervention.

Confidentiality These brothers were recently diagnosed with Fragile X Syndrome (X-linked MR). What if… The parents just learned they are expecting a girl fetus with a premutation. They plan to terminate the pregnancy, to put an end to “the family curse”. There is a long family history of MR . Mom feels extreme guilt and shame for ‘giving’ her sons their disease and is mortified to share this information with anyone, including family. She chooses silence. It’s a small town and the healthcare provider for the family also cares for other family members at risk. He knows too much and is tempted to disclose.

Benefits vs. detriments of genetic testing Reduces morbidity and mortality through close surveillance of high-risk individuals Eliminates need for extra surveillance in individuals with no increased risk Designer treatment Information, understanding, support from others ‘like’ you Psychological impact of knowing you have a life-threatening condition (or that you have escaped it) Possible insurance discrimination Family discord due to ‘rippling effects’

Genetics in the New Millennium “I almost forgot to say that genetics will disappear as a separate science because, in the 21st century, everything in biology will become gene-based, and every biologist will be a geneticist.” Sydney Brenner, 1993 http://vector.cshl.org/dnaftb/15/concept/