Journal 6-7-2011 Directive vs nondirective
Before we saw our add-on patient in XXX Hospital today, Joan told me the patient would not easy to handle because the sonographer told her so. So she would deal with the entire case while I watched. The patient is an 18-year-old girl. While taking family history, we learned that she lost a baby boy one year ago due to early placenta rupture. The baby died 5 days after delivery. She told us in detail what happened to her. I thought this tragedy still lingered on her. We saw her because she got a positive screening result showing her baby was at increased risk of having Down syndrome. Our job was to discuss with her about invasive test options. After we mentioned the baby’s risk of having DS, based upon screening result was about 1/260, less than 1%, she laughed and apparently relieved. The session started to shift afterwards. The patient and her mother-in-law had no interest in listening to any testing options. They was in rush to take off even without seeing the doctor. Their explanation was U/S confirmed that the baby was a boy which apparently what they expected. So they needed to inform a bunch of family members. They convinced each other that less than 1% meant nothing, they were sure the baby would be fine since they have been always blessed.
The way Joan handled it was she reassured that the risk was small and they should not have any testing. I may not exactly copies what Joan said. But at that moment what she said impressed me that she was directive. I don’t disagree with her that sometimes we genetic counselors can be directive if that is what a patient wants. Reassurance would be important for patients since we are professionals. The bottom line is patients really understand their options and choices and they make their own decision. What GCs do is to help them convince their decision is fine as long as it will be benefit their life. If I were her, I might have highlighted the risks again or brought up the background risk of birth defects. I am not confident or comfortable to mislead patients that they are off the hook. But I understand sometimes being directive to convince patients’ decision is also important and helpful.
Journal 6-08-2011
Changing strategy
We had two patients today. Both are AMA. The first patient was carrying triplet conceived by IVF due to the fact that both of the couple had history of infertility. She had blocked tube and he had low sperm count. They were met by MFM doctor and discussed risks of SAB, preeclampsia, gestational diabetes, twin-twin transfusion of genetic syndromes, etc. The couple declined selective reduction. They were thinking about screening and invasive diagnostic testing, which is the reason they came to see us.
My goal of today’s session was to add counseling component as possible as I could. So I paid attention to their response. In our session, she was tense and sort of quiet. She asked me to repeat a couple questions. I thought it was because of my accent. Then she said something like “I need some water” or “my mouth is dry”. Neither I nor Nancy heard it clearly. Then I paused and asked if she needed a break. She took a gum and said she was fine. Session continued. I knew she wanted to learn screening test options. Unfortunately, Dr. Debbs’ office didn’t offer blood test for screening. I could see her disappointment since she said I only wanted blood work, which means she might not be interested in invasive testing now but she wanted to learn her risk first. So I told her U/S for NT measurement. She seemed to feel relieved because there was something to help her learn the risk.
Our second patient is 42 years old. She seems soft and dependent on her husband a lot. She told me the reason she came in was her age. Learned from Nancy, I joked a bit about advanced age. Apparently, it helped making her comfortable. Before getting into details about screening and diagnostic tests, I emphasized that all testing is optional, nothing is mandatory. I gave them examples by saying some couples chose to have no test since nothing would change their pregnancy; some wanted to look at their risk first then decide; some wanted to make sure their babies are fine so they choose to have invasive test directly. Also I mentioned that “we don’t you to feel bad or being anxious. There is no right or wrong choice. People make their decision based upon their own balance of benefits and risks”. Then instead of talking about testing options, I asked their thoughts. It turned out that they didn’t want to any testing since they won’t change their pregnancy plan. Then I emphasize that out job was to make sure they knew the options. If they have any questions or concerns later, or if they change their mind, please contact us.
I feel 1) I like patients asking me questions so I know what they need. So pause at certain point would be effective. 2) paying attention to their responses or their needs is the basis to build up the rapport. So the session would benefit patients.
Journal 6-13-2011
Adding a little bit counseling component
We had three AMA patients today. So my goal was to add a bit counseling components in my GC session.
While reading the chart of the first patient, I realized that she is 39 and had 3 kids now. Most likely she might have had GC before. Therefore, we started with asking the patients about her last GC and testing. It turned out that both her sister and she had false positive experience, which caused her disbelief of any testing. I did respond that both false positive and false negative could happen. But Nancy made it clearer that 5% of people might get false positive results, meaning the babies actually are not at higher risk of having DS or T18. I think in this scenario, I better use concrete numbers. Otherwise, patients might question the accuracy of screening tests.
As I learned from the first case, the second case today went well. Patient was in her first pregnancy and her hemoglobin A1C suggested increased risk of having diabetes, either pregestational or gestational. I discussed with her about follow up hemoglobin a1c testing to distinguish pregestational from gestational diabetes as well as the increased risk for the baby to have NTD or heart defects if she does have preexisting DM. When talking about age related risk, I mentioned that “we cannot tell you it is high or low risk because everybody look at the numbers differently. But it is a higher risk than general population”. By doing this, I think the patient would understand the increased risk though the number is very small, usually less than 1%. When talking about testing options, in addition to mention that testing is optional, I also asked the patient’s thoughts first to find out her interest. It is not uncommon to find that patients are not interested in invasive testing at all. But our job is to offer it and let them know they are available in case they might change mind and need it. And we confirmed that even the screening showed the baby is at higher risk, the patient would not consider invasive testing options, at least at this moment. I found that patients prefer U/S. So in my counseling, I convinced them to have level II U/S even without invasive testing. As a GC, our job is to provide as much as we get and find the best solution for patients within their limits.
Our last patient had a family history of cancer. She told us her sister who has breast cancer gave up the idea of testing due to limited insurance coverage. Working in a prenatal setting, I recommended her to follow up OB doctors and check up annually.
Lesson I learned: we learned to ask patient what they will do with testing in Kathryn’s class. In real GC session, I realize it is very helpful to personalize a GC session according to a patient’s situation. GC is not genetic teaching. If patients are not interested, they won’t absorb any information no matter how much they are given.
Journal 06-16-2011
You never know what is coming up. Nancy and I were told we had AMAs. It turned out that we had two emotional patients.
The first patient I am writing about had increased risk for both Down syndrome (DS) and T18. Her level II U/S found echogenic left ventricle. The couple was very sad when they came to see us. Although we tried to help them see the bright side that 90% of the chance the baby would be fine, it was still extremely hard for them to make a decision about amniocentesise. The couple had following struggles. 1) They struggled whether they need an amnio to really find out if the baby has DS or T18. 2) Due to the fact that T18 is more severe than DS and there is about 10-40% (might not be accurate) chance the baby would abort spontaneously, they struggled with waiting for miscarriage or having an abortion. The couple learned about DS from their neighbors and they pretty sure they would raise a baby with DS. 3) If the baby has T18, can they bear seeing the baby die? Before they came to us, they sort of had a consensus that they would “let God decide”, suggesting they would neither pursue any further testing nor a termination. From what they said, Nancy thought they are very religious. So termination would not be an option for them. The question would be if they would like to find out what the baby has. By the way, our patient is 43 years old and the couple tried hard to get pregnant. In the entire session, the man was clearly overwhelmed and regressed. His eyes were red and he just sat there, barely talked. He asked twice whether U/S findings would change the risk number. I could feel he was disappointed when we convinced him it would not. The mother asked us many good questions. But she was very sad. Sure enough they composed themselves in front of us, strangers and professionals.
This is a real case. I was very impressed that patient’s response is sometimes beyond of my imagination, ie I can’t imagine how they feel and what they struggle with in classroom. To me this is a straightforward decision that I would have an amnio then terminate if the baby has DS or T18. However, taking into account of religion, culture, past life experience etc, it is really hard to make a decision. I felt awful in the session that as a GC, we do offer patients a lot of options. But what they want is a solution or decision. If they only have one option, they will go for it. The more options they have, the more difficult for them to make a decision. Besides, we are nondirective. The patient did ask Nancy what she would do from a professional perspective. Of course, Nancy talked about what other couple might do instead of what she would do. I felt like patient really wanted to learn our opinion. But we turned around and left them alone. I don’t know if the patient felt the same as I did and felt she was not supported.
The second patient came in also for increased risk for DS. She is only 28 and came from Sierra Leone, country torn by civil war. I did try to soothe her by saying “this is just a risk. We are not saying the baby has DS” at the very beginning. Then after I answered her question about severity of DS, she said a couple times that “it is so scary”. Since we were running late, we didn’t explore a lot more about the reason she was scared. But when we took pedigree, we found out four of her maternal uncles were killed in war. Nancy showed her sympathy and had a little chat with the patient such as “is it the reason your mom brought you here? Is your mom doing well? (the patient said her mom is back in Africa now”. After the session, Nancy and I talked this case, we thought her life experience would be so different from most of us. She had gone through many adversities including her uncles died in war, her sister died from measles (who dies from measles nowadays in US!?). She is expecting a baby. Now she had to deal with the possibilities that the baby might have DS. The good thing for her is her mom and aunt is very supportive. She would talk to them first then make a decision about amniocentesis.
Obviously, these cases are so good for me to learn counseling. In my observation, the way Nancy talked, her pace and tone clearly showed her care and sympathy. She addressed patient’s concern promptly and managed to help them see more options and take them through the thinking process. She took care of both patient and partners. She asked for supporting resources. She encouraged them to ask questions. She is very good at brake down information into piece and explains it in simple language. I sometimes think some information is not necessary for patients to learn. I guess the reason I think so is I haven’t been comfortable to explain science in simple words. Only when counseling comes in, we are doing genetic counseling.
Journal 06-22-2011
Day 3 in Mayo Clinic for my lab GC internship. I feel I am getting familiar with things which are seemingly overwhelming.
Mayo started to hire GC 15 years ago. Therefore, they have a well-defined and managed system for lab GC to work in. There are several distinctive features in Mayo Cyto lab. 1) Everything is checked by multiple people. I describe cyto lab system as cell division. There are checkpoints at every step. Once someone feels questionable, usually GC comes in and plays a role of consultant. The whole process includes accessioning, cell culture, chromosome analysis, data review, director approval and signing-out and GC calling out the results. Obviously, the previous step will serve the next step and the next step will double check the work from the previous step. 2) Communication is the key to make the loop working well. GC functions as a strand to connect every bead on this loop. GCs are resources for other specialties. Obviously, GC needs to master extensive knowledge to be the resources for others. In addition, the counseling skills GCs hold will facilitate the communication among people on different specialties. 3) When GC calls out results, they explain what is abnormal or why the abnormalities is associated with certain clinical phenotypes rather than just telling the clients abnormal or normal. Especially when physicians ordered ambiguous tests, GC’s role as an educational resource would be very important. For instance, a physician ordered both FISH for 22q and CGH for a newborn. GC called and wanted to tell the physician he ordered redundant tests. After GC clarified the purpose of calling the physician, the physician first insisted to have FISH because it is a quick procedure. Then GC asked if the baby presented any 22q feature. The physician said no except hypocalcemia. Then GC explained that FISH is specific for detecting 22q deletion, may miss other causes. Then the physician tended to choose CGH. To convince him, GC explained why CGH is a better choice in his cases. The physician decided to change test and sort of worried about turnaround time. GC convinced him that we will prioritize this case. Then GC informed accessioning, culture as well as call-out GC the change about this case. 4) Besides traditional lab work, research is one of important components for Mayo Cyto lab GCs. Every GC has a project to work on, especially for ISCA consortium since Mayo Cyto is one of the founders. In addition, providing education for medical students, cyto school, nursing school etc is also part of their job.
It is great to have this opportunity to learn from a well-organized lab GC system.
Journal 6-30-2011
Report or not report?
I am well aware of ethical issues lab GCs are facing today when talking to our intern students and GCs. Report or not report? This is a question.
Theoretically, lab GCs are supposed to report everything they see in test results. So why is this a huge question for counselor?
First, because the testing is not perfect. For example, in Mayo molecular lab, they use DMD as control. So it is possible that they found a female patient to be DMD carrier. In this scenario, should they report or not, when reason for referral is not testing DMD? If they report, it could make the patient anxious, especially when the patient has sons. If not report, what if the patient had sons, should we just be blind and let it go? Then where is “duty to warn”? It is apparently a dilemma for lab GCs.
Even we don’t use DMD as a control, we still have a great chance to find something we are not expecting. Carrier testing, for instance, may lead to find affected individuals. Or one the flip side, if a couple ordered rule out testing for CF in prenatal setting, but the result showed the baby is a carried instead of an affected, should GC report it?
In case that a female patient has Fragile X carrier testing by PCR, but the test result shows she has only one X allele. Should we offer chromosomal analysis to rule out Turner syndrome?
Apparently, technology goes faster than our ability to deal with the dilemmas. I believe there are guidelines for follow. However, guidelines won’t guide us for all cases. So “report or not report” is indeed a huge problem.
What solutions do lab GCs have? Personally, it should be working as a case by case fashion. Weighing the benefits and risks for the patient and family would be helpful. Do they have more benefit than anxiety after being informed? Do they want to know the results other than what they are tested for? If we report, will it benefit their children?
For example, if patient was tested for PWS. Test result showed 22q deletion rather than del/dup or methylation alterations in PWS critical region. I think we should report. Because the physician who ordered the test might want to rule out or make diagnosis based up the test results, especially PWS and 22q deletion share some overlapping characteristics.
If a 55yo patient was tested for a-thal and the results turned to be negative for a-thal but was indicative of XXY and DMD duplication, should we report? I personally think we may only report a-thal result. Because the patient is 55yo and he didn’t complain infertility or neuromuscular disorders. Individuals with DMD usually pass away at their 30s. Of course his daughters and sons, if any, are at risk to have DMD. But I better let themselves find out instead of provoking their anxiety. But what if the patient was a female? Things would be very complicated.
Another example is that test result showed a female minor had a deletion in BRCA2 region. Should we report or not? My thinking is: first of all, I’d like to find out if reporting is inappropriate because Myriad holds the patent for BRCA genes. Second, if the test was done by CGH array rather than SNP array, usually the technology only finds deletion in one copy of the allele. So the patient had increased chance to develop breast cancer, which doesn’t mean she will definitely have breast cancer. So I tend to hold the result. Of course, family history plays a role in determining whether GC should report unexpected reports. But still GCs in lab frequently face these dilemmas of reporting or not.
I wish there were policies to allow GCs to hold test results for minors until they become grow-ups. I wish physicians could work as filters between GCs and patients. But apparently it is unfair to add additional burden to physicians. So I think we GCs have to fight back and forth between guidelines and dilemmas. But I believe we won’t forget our goal of improving patient care. So not matter whether we report or not, our reasons are always for patients.
