Genetic Counselor Roles

Go straight to: Pediatic Genetic Counseling | Research Genetic Counseling

Since the discovery of the structure of DNA in 1953, the field of genetics has been growing exponentially. Every year brings new information and ideas about genes, genetic diseases, and complex patterns of inheritance. This fast-paced field is more than most people can keep up with. In addition, our society’s extreme sensitivity to genetic information and the perceived prognostic nature of our genes has created a necessity for the genetic counselor.

In 1968, Melissa Richter, a professor of psychology and biology at Sarah Lawrence College and director of the Center for Continuing Education, realized this necessity. Ms. Richter saw “the severely inadequate services provided by most hospitals to physicians and to the patients at risk for or affected by these [genetic] diseases”*. She wanted to create a new type of professional that could understand and explain the genetics behind these diseases and who possessed the counseling skills to provide psychological support. Ms. Richter started the first genetic counseling program in the fall of 1969 at Sarah Lawrence College.

The roles of genetic counselors have expanded and evolved over the years and in some cases have moved beyond the more traditional roles of clinical work in prenatal, pediatric, and cancer settings and into other areas such as research, lab work, marketing testing services, working in education, or providing expertise to policy makers on Capital Hill. The skills demonstrated by genetic counselors are valuable in all of these capacities.

This section highlights the typical day of one example of a genetic counselor working in the clinical pediatric setting and one example of a genetic counselor working in a research setting.

* SLC: Sarah Lawrence College Human Genetics Graduate Program History. (2006).              http://www.slc.edu/index.php?pageID=2494

Pediatric Genetic Counseling

Traditionally, genetic counselors work as part of a medical team to provide families with information and supportive counseling regarding genetic conditions that the patient and their family are experiencing. These traditional counselors usually work in a hospital setting and specialize in areas such as prenatal, pediatric, or cancer genetic counseling. The following is a summary of a typical day of a pediatric genetic counselor.

“I arrive at work and check my schedule for the day. Today I have two patients. The first patient, at 1pm, is a 4-week-old girl coming in due to a positive newborn screen for cystic fibrosis (CF). The newborn screen detects individuals with at least one known CF mutation. Before coming to see me this afternoon, she will have a sweat test, in which the chloride level in the baby’s sweat is measured. This will tell diagnostically whether she has CF or not.

I look over her medical records for any other important medical history information such as respiratory or gastrointestinal issues, which could be related to CF. She has no medical history. 

The second patient coming in at 2pm, is a 1 year old boy with known Y;15 translocation. There was no other information provided, so I hope the parents will bring records reporting this test finding.

I search for any available literature regarding the specific Y;15 translocation that this boy has. This is a very rare chromosomal finding, so in searching the online database, Pubmed, I find only two papers discussing specific cases of an individual with a Y;15 translocation. In one of these cases the chromosome with the fused Y and 15 includes more extra chromosome material than there is with my patient. The other paper discusses a case if an individual with the same exact translocation as my patient. This paper reports that there are no significant medical findings associated with this translocation in this individual.

It is now 1pm and the first patient arrives. Upon her arrival I learn that she has had a negative sweat test and is therefore a carrier of cystic fibrosis, but does not have the condition. This is the first thing I explain to the parents, adding that being a carrier does not have any medical implications for their daughter. They look very relieved and I ask them if this is the case. The mother explains that she was very worried because she received a call from the pediatrician saying that her daughter had a positive CF screening test and that she needs to see genetics. We discuss her concern and that the result from today means that her daughter does not have CF.

During the remainder of the session, we talk about how CF is inherited in an autosomal recessive fashion, and most likely one of the parents is also a carrier and has a 50% chance in each pregnancy to pass on the non-working copy of the CF gene. In addition, when their daughter is planning her family, she may have a similar consultation with genetics.

Finally, as it is possible that both parents could be carriers but only one passed on the non-working CF gene, I suggest that both parents be tested for carrier status. If only one parent is found to be a carrier this will significantly lower, but not eliminate, their risk of have a child with CF. The parents opt to come back to have their carrier status tested and an appointment is made for next week.

After the session, I write a letter detailing the information discussed in the session and send a copy to the parents, the pediatrician, and the newborn screening lab.

At 2pm my next patient arrives. He is accompanied by both of his parents. I begin the session by asking the parents what their understanding is of today’s visit. The father explains that an amniocentesis during the pregnancy with their son revealed a chromosome abnormality, but they don’t know what that means.

Since neither parent has a background in biology, I explain to them what chromosomes are and what genes are. I talk about how too much or too little genetic information can cause our bodies not to grow and develop properly. The chromosome change found in their son is an extra piece of a Y chromosome attached to one of his chromosome 15s. While there is limited literature about this change, what we do know is that this part of the Y chromosome is an area of mostly filler DNA that does not contain any necessary genes. In addition, the case report that I could find discusses a little boy with the same change that does not seem to have any medical issues.

At this point the father asks if that is why he has the same change, but has no medical problems. I am surprised at first to hear this, as I was unaware that the father had been tested. He hands me a piece of paper showing me test results from his and his son’s karyotype, both with the same Y;15 translocation. I tell him that he is exactly right. However, I add that genetic findings can manifest differently in different people and while his son will likely not be affected by this chromosome change, he should continue to be evaluated on a yearly basis to make sure nothing arises.

The parents thank me and leave. I then sit down to write a letter, which I will send to them and the pediatrician. When I am finished, I check my schedule for tomorrow.”

Research Genetic Counseling

Other genetic counselors use their training in a different capacity. For instance, research genetic counselors typically work in clinical research settings as part of a research team and carry out participant recruitment and consent; data collection, management, and analysis; as well as providing psychosocial support for participants. The following is a summary of the typical day of a genetic counselor working in clinical research.

“I am part of a team of researchers trying to isolate genes involved in certain types of heart conditions. Today I have to consent two individuals for this study and obtain tissue samples from the operating room.

It is now 10 am and I am walking to a different wing of the hospital to the room of a newborn boy who was born with a heart condition called Tetrology of Fallot. I will ask the parents of they would like to be part of the study.

When I arrive, both parents are clearly very upset. They are standing over their baby looking at him. I introduce myself and tell them why I am there and that I know that this is a very difficult time for them. I ask if it is ok if I talk with them for a few minutes. They say it is ok and I begin to explain the study. After a few sentences, the mother breaks down and begins sobbing and says that she cannot do this right now. I tell her that’s fine and touch her hand. I ask if they want to be alone right now and she nods yes. I tell them that I am leaving a copy of the consent form and my card. If they want they can look over it and contact me with any questions about the study.

I then go to the room of another baby born with a similar heart condition. His mother and grandmother are present. Again, I introduce myself and tell them why I am there and that I know this is a very difficult time for them. I ask if is ok if I talk with them for a few minutes. They say ok and I begin to explain the study.

In an attempt to look for genetic markers associated with certain heart conditions, we are trying to obtain family and medical histories from individuals born with these heart conditions and from their family members. We will also take a blood sample from the individuals participating in the study to analyze their DNA for these markers. The mother then interrupts me to say that she would very much like to be part of this study especially if there is a chance that this research could help other people to not have to go through what she, her son, and the rest of their family have gone through. I acknowledge this and read and explain the consent form for the study. She signs it for herself and her son. The grandmother signs one as well. Finally, the nurse comes in to draw their blood for me and I label the tubes. I give the mother my card and tell her to call with any questions.

I return to my office to record and catalogue the samples and consent forms I obtained.

Next, I head down to the operating room. Sometimes the surgeons are able to obtain samples from discarded heart tissue from surgeries earlier in that day. Today they have two pea size pieces of tissue in a vial for me. As there is no record of whom these samples came from, the consent process is not necessary. I return to my office to record and catalogue these samples. I spend the rest of the day reading articles related to our research topic which may be pertinent for the literature review.”