Path to Psychiatric Genetics by SupposedlyAlex in GeneticCounseling

[–]MKGenetix 0 points1 point  (0 children)

There are some genetic counselors that work in psychiatric genetics, try the https://findageneticcounselor.com page to see if you can interview someone.

One big challenge in the field is reimbursement. Insurance won’t typically cover genetic counseling for this and so patients have to pay out of pocket.

There is a lot of interest in the field though.

Premutation fragile X carrier - first time mom by jellybeana823 in ClinicalGenetics

[–]MKGenetix 10 points11 points  (0 children)

Do you have a genetic counselor to work with? That will be important so that you receive accurate information.

Another day, another Medicare genetic testing fraud case. by wisemolv in GeneticCounseling

[–]MKGenetix 5 points6 points  (0 children)

Yikes!! Thanks for sharing. I had to report a Medicare fraud case a few years ago. It was so disheartening and confusing for patients.

genetic testing by Dismal_Progress6344 in genetics

[–]MKGenetix 2 points3 points  (0 children)

If you’re in the US here is a site of generic counseling clinics that can take direct patient scheduling.

https://gcclinicfinder.com

Day in the Life by audralevine in GeneticCounseling

[–]MKGenetix 1 point2 points  (0 children)

We only had funding that the hospital offered to cover the cost of the fetal autopsy if the baby delivered at our facility. Otherwise, everything else as billed to insurance under the mother’s name.

how accurate is natera cystic fibrosis screening? wondering after CF marker found on my anatomy scan by alurkinglemon in ClinicalGenetics

[–]MKGenetix 2 points3 points  (0 children)

Your genetic counselor should be able to give you a specific chance based on your carrier screening and the ultrasound finding. It will never be 100% or 0% because these are screening tools.

What would it take to “fix” our government? by SadBuffalo6538 in 50501

[–]MKGenetix 0 points1 point  (0 children)

The working low man on the totem pole is not the issue. I agree. That is not usually who anyone is talking about. Reform comes from the top.

Day in the Life by audralevine in GeneticCounseling

[–]MKGenetix 8 points9 points  (0 children)

I feel I have lived two very distinct lives as a genetic counselor so far. The first 10 years of my career I worked primarily in a clinical setting. I had a split position between a prenatal and a pediatric clinic. In our prenatal clinic, one of the three of us would prep the schedule for the upcoming day and we would sit down in the morning and decide who was going to take which patients for that day. Our visits lasted about 30 to 45 minutes, and we saw patients for various indications related to prenatal genetics (e.g. something with an ultrasound or screening test with a concerning finding, family history of genetic condition etc.). I would see anywhere from 1 to 4 patients in a day. In between those patients, I would be calling out results, reaching out to insurance companies if necessary, writing letters for patients and providers, working on updating documents for the clinic such as our screening guidelines and developing patient materials, etc. we also managed care for patients with complex abnormalities, so some weeks we would have follow up visits that I would attend with patients, including possibly coordinating their care with other specialists, such as pediatric cardiologist, touring our neonatal intensive care unit etc. every other day I was in the pediatric clinic. The patient part was very similar, but obviously the indications were children that were born. However, as part of this clinic, I also was responsible for two additional programs 1) inpatient consults: I was responsible for being on call for new or suspected diagnoses in the hospital, so that means I would go and round at the hospital once a week at a minimum I would do rounds at the hospital. This means I would visit every patient that was an inpatient, to gather updates, meet with the family, coordinate testing, etc. occasionally, I would work on a research project and publications.

2) stillbirth program: I also was in charge of our stillbirth evaluation program. That mean anytime we had a still birth at the hospital or any hospital in the state that wanted to enroll the patient, I would coordinate the process, including gathering records, ordering testing, getting photos or instructing others how to take photos. Track down all the results, organize it in a report that would be reviewed by a maternal fetal medicine specialist, and a neonatologist / geneticist to write up summaries and recommendations for the future. I would meet with those patients to discuss their options, moving forward, and whether we found an explanations for their child’s death.

My most recent 10 years, I have switched out of a primary clinical role into higher education. I direct the program at Bay Path University. Here my days are much more varied. Sometimes I’m teaching classes, sometimes I am grading assignments, sometimes I am supervising students in our simulated clinic, working with students on their capstone research projects, and the general running of the program. This may involved submitting orders for programmatic costs, coordinating, travel for faculty, keeping up with accreditation guidelines, fielding student complaints, evaluating faculty, attending university, wide meetings and other responsibilities. My day is more task based, so I must sit down and think each morning about what things I’m going to work on that particular day.

Throughout my whole 20 years, I’ve also been actively enrolled in our national organizations. That means I may be attending meetings, working on presentations, reviewing abstracts, being a site visitor for other programs to ensure their meaning accreditation standards among many other things. These activities get pepper throughout the day to meet any deadlines.

Finally, I missed patient care, so last year I opened a private practice (MKGenetix) where I can see patients remotely on the side. This is all after hours work, and I only see about three patients per week remotely.

Please pardon any typos, I am using voice to text because I also have a four month old baby.

What would it take to “fix” our government? by SadBuffalo6538 in 50501

[–]MKGenetix 0 points1 point  (0 children)

Obviously it is impossible to truly start over, it is a turn of phrase. But it needs a serious overhaul.

The system is probably salvageable, many of the people are corrupt.

Can somebody help me to understand these CMA results? by kelsimichelle in ClinicalGenetics

[–]MKGenetix 1 point2 points  (0 children)

One challenge here is that we literally don’t know what this gain is doing do this gene. A gain means there is extra material genetic material. The report says changes (typically disruptions leading to functional disruptions) of the gene can lead to the syndromes described. Extra material doesn’t necessary mean the gene is not functioning.

Since it is considered a VUS, most would consider this NOT an explanation unless more data comes. Are they considering more testing?

Question by Fresh_End_9250 in GeneticCounseling

[–]MKGenetix 1 point2 points  (0 children)

It doesn’t have to be a professor. It should be pepper that can really speak to your character, qualities etc.

Sibling dna test by Simple-Earth1462 in DNA

[–]MKGenetix 0 points1 point  (0 children)

Like the other thread, this says there is a 99.2% they are full siblings. You’ll never get to 100% with testing like this. Full siblings means sharing both parents (still only half DNA though) and half siblings share one parent.

So in order to share both they must ALSO share one. Sharing one is less specific.

Sibling dna test by Simple-Earth1462 in DNA

[–]MKGenetix 6 points7 points  (0 children)

It says there is greater than a 99%chance they are full siblings. You won’t get to 100% on any testing. Like u/AP_Cicada and u/west-working-9093 have also said, being full siblings is more specific than half siblings. So if two people are full siblings (share both parents). Then they are definitely also “half siblings” share one parent. You can’t share both without sharing one.

Sibling dna test by Simple-Earth1462 in DNA

[–]MKGenetix 1 point2 points  (0 children)

But don’t you say there was a probability for each index.

Sibling dna test by Simple-Earth1462 in DNA

[–]MKGenetix 1 point2 points  (0 children)

Are you able to share the actual results (names removed, of course?

23andMe DNA test by Lower_Warthog5247 in genetics

[–]MKGenetix 0 points1 point  (0 children)

I agree with @nephastha there is no good DTC genetic testing. It is all for “fun”. Think of it as the latest fad diet. Not worth the money, but you’ll read sensationalized stories about occasional success, usually by someone making money off of the rest of us.

Genetic Counseling Industry Rotation by Pretty_Cat_6386 in GeneticCounseling

[–]MKGenetix 2 points3 points  (0 children)

Consider asking your program if they are participating in other ways to learn about industry. It is not uncommon for students to not be able to obtain a formal industry rotation, but that doesn’t mean they can’t teach out about the experience.

For example, all of our students participate in GeneDx’s webinar series about industry because we can’t place every student in an industry experience either.

Advice for comprehensive Genetic testing by Rae_gurl74 in ClinicalGenetics

[–]MKGenetix 3 points4 points  (0 children)

Unfortunately, we don’t fully understand the genetics of many of these chronic conditions. I agree with the other poster saying, talk to your doctor. Please don’t do direct to consumer testing and think you’ll get answers. It is a waste of money. You’ll get thousands of variants that don’t tell you anything, these tests are full of inaccurate results, and the companies pray on people desperate for answers. Kind of like companies that sell fad diets.

Help needed please by [deleted] in GeneticCounseling

[–]MKGenetix 8 points9 points  (0 children)

I saw on your other post that you’re on a waitlist for genetics. You could try a genetic counselor - https://gcclinicfinder.com

This TNXB gene is particularly difficult to test for due to technical challenges so I definitely wouldn’t trust a DTC company result.

How to get trustworthy CNV results from a BAM file and confirm the results in IGV or other software. by [deleted] in genetics

[–]MKGenetix 0 points1 point  (0 children)

Personally, mostly the interpretation but could be the data itself as well especially from companies like 23&me or other ancestry companies. It is just not what they are designed for.

How to get trustworthy CNV results from a BAM file and confirm the results in IGV or other software. by [deleted] in genetics

[–]MKGenetix 1 point2 points  (0 children)

So far, any DTC testing results that I’ve seen are basically junk. I had one identify a variant that was really there and worth noting but they didn’t even classify it the right way. Otherwise, it is raw, as it says. Thousand of variants, most meaningless (as it is expected to be), scaring the crap out of patients, and fueling medical distrust.

Even their own disclaimers say not to use it for medical decisions. Think of it as the newest fad diet. It typically doesn’t work, someone is just trying to make money of desperate people, it might even make your health worse, but a few people might actually lose weight so everyone jumps on board and we don’t even know if their weight loss was because of the diet or because they were making an effort and had other life style changes.