The landscape of the genetic counselor workforce has shifted dramatically in recent years, in large part due to new opportunities for genetic counselors in genetic testing laboratory settings.  According to the Professional Status Survey conducted by the National Society of Genetic Counselors, the number of genetic counselors who report a laboratory as their primary work setting has doubled in the past 4 years and nearly tripled in the past 10, with 21% of genetic counselors reporting a laboratory setting as their primary workplace in 2016.  And this likely under-represents the percentage of genetic counselor who are employed by laboratories, as many who work for labs but see patients in clinics likely report their primary work setting as clinical.  

 

In an analysis of genetic counselors licensed in the state of Washington (presented at the NSGC meeting in 2016) we noted that 42% of genetic counselors were employed by commercial laboratories in 2015 as compared 22% in 2011.  At the same time, the percentage of genetic counselors licensed in Washington state in clinical positions decreased  from 60% in 2011 to 42% in 2015.  

 

While genetic counselors play important roles in laboratory settings, what does this shift in employment mean for the field of genetic counseling?  What does it mean for patient care at a time when genetic counseling services are more needed than ever?  

 

Many hospitals are struggling to recruit and retain genetic counselors for their practices and are looking for alternatives when there aren’t independent genetic counseling services locally available.  One option many medical practices are relying on is genetic counseling services provided by the testing laboratories.  

 

While lab-based genetic counseling services are filling an important need, there is a conflict of interest inherent in this arrangement.   Genetic counselors’ primary objective has historically been to help patients navigate difficult medical genetic information and decisions, supporting their autonomy.  But as laboratory employees, genetic counselors must also consider their employer’s interests, which includes increasing the uptake of genetic testing.

 

Challenges regarding conflict of interest in research and healthcare are not new, however this is an area of increasing concern in genetics.   

 

For more on this topic check out our commentary recently published in Genetics and Medicine and read our recent post, published on Harvard Law Bill of Health blog, written with our colleagues Marsha Michie and Megan Allyse.

 

An important part of our mission at Genetic Support Foundation is to address issues related to conflict of interest and to provide options for independently developed educational resources for patients and providers and genetic counseling services that are free from the commercial bias.  

Why you should support GSF


As the end of the year draws near, I have been thinking a lot about what GSF means to me, and why I think you should consider making a gift to GSF this year.

It has been an amazing opportunity to work with GSF as a genetic counselor.  To be able to walk with people during incredibly important and often very difficult times in life.  To try to help people make meaning of the uncertain or unimaginable when it comes to their health or that of a loved one.  To offer support and understanding and hope.   Whether it is through our work in supporting an expectant couple through the grief of the diagnosis of a life limiting condition in their unborn baby; or helping a cancer patient and their adult child recognize the tremendous power of genetic information for prevention of future cancers in a family with a strong inherited susceptibility.  This work is profoundly important and I believe it is critical that our profession keep focus on our patients first, and not be compromised  by commercial interests.

We are at an incredible time in the field of genetics and medicine.  There are new discoveries every day that can make a difference in human health.  But all of these discoveries don’t mean a thing unless you have trusted advocates and interpreters that can help translate complex science into meaningful information that can be applied to one’s personal situation or to  their  family.  

Genetic Support Foundation aims to increase access to impartial genetic counseling services, to reach as many people as possible.  

While discoveries in genetics are exploding, we are seeing a shift in the availability of genetic counseling services.  The genetic testing labs that develop and sell genetic tests are increasingly employing genetic counselors to be a part of their teams in a variety of capacities – from working as liaisons with healthcare providers, to writing test reports and educational content, to being part of the sales force, and even working directly with patients.  While genetic counselors can play valuable roles in their work with genetic testing companies, there is concern regarding conflict of interest when genetic counselors are paid by commercial labs and are making decisions and recommendations related to patient care.  Additionally, this shift  is putting a new strain on the genetic counseling workforce.  This is troubling, especially since this burden comes at a time when independent genetic counselors are needed more than ever.  

We presented data at the National Society of Genetic Counselors (NSGC) conference last fall on the changing landscape of genetic counselors licensed in Washington state between the time licensure was initiated in the fall of 2011 as compared to the fall of 2015.  We noted a sharp increase in the proportion of genetic counselors who were  employed by commercial laboratories (42% in 2015 as compared to 22% in 2011) and a decrease in the proportion of licensed counselors employed in a clinical setting during that time frame (60% in 2011 and 42% in 2015).  

 

And while there are more genetic counselors coming out of training programs than there ever have been before, are there enough genetic counselors to meet the current needs?  Will we be able to keep up as demand increases?  The NSGC recently conducted a workforce study and concluded that there is a shortage of genetic counselors engaged in direct patient care. Considering the number of genetic counselors who are expected to graduate from a growing number of accredited training programs and enter the workforce in coming years, combined with the current demands, if the demand assumption is based on one genetic counselor per a population of 75,000 people,the study predicted that it will be 2030 before we have enough genetic counselors trained to meet that demand.  

This is why the work that we are doing at GSF matters.  At a time when there are not enough genetic counselors to help navigate patients through the journey of understanding genetics as it relates to their health, we are developing programs and tools to extend the reach of genetic counselors.  Our goal is to increase access to independent genetic counseling services and quality information about genetics and genetic testing to anybody who needs it.  This is no small task.  How do we continue to reach more people when resources seem to be exceedingly scarce?  How do we ask genetic counselors to take on more and more with less?  We believe the answer is innovation, community and a lot of heart.  You can learn more about the work we are doing at GSF here .

Thanks for considering supporting this work.

Chromosomal Microarray (CMA)


Chromosomal microarray (CMA) is a technology that the American College of Obstetricians and Gynecologists now recommends be offered as a first-tier test for any woman undergoing diagnostic testing to replace the standard karyotype that has been used in practice for prenatal diagnosis for decades. This is a big change in practice; while the result may be an increase in the number of genetic differences that can be diagnosed through prenatal testing, it also comes with more uncertainty for expectant parents and healthcare providers who are trying to make sense of the results that may come from this testing.

 

First let me give some background on why the CMA test is different than the karyotype using the analogy of a library.  The nucleus of each of our cells contains our genetic information.  Imagine the nucleus to be like the library of the cell.  Each of us have about 20,000 pairs of genes, and each of these genes could be considered to be like an individual instruction book that tells the body how to build a specific protein that will have a specific job in our body.  The proteins that are built from our genes do everything that our bodies need to grown and function.  Our genes, (aka instruction books) are organized on chromosomes.  In this analogy, consider each chromosome to be like a large bookcase.  

 

The karyotype is a picture of the chromosomes and basically allows us to look at and count these bookcases.  In doing this we can see if there are any extra or missing bookcases (chromosomes).  Typically humans have 23 chromosomes inherited from their mother and 23 from their father in matched pairs, so 46 all together.  An extra or missing chromosome causes specific genetic conditions.  For instance, a baby with Down syndrome has inherited an extra copy of the 21st chromosome.    

 

The karyotype can also allow us to see if there are big structural changes in the chromosomes.  You could imagine this to be a scenario in which a few book shelves had been completely removed from the bookcase (so now a 10 shelf bookcase is a 7 shelf bookcase, for example).  This type of big change can be seen in looking at a picture of the chromosomes.  

 

The chromosomal microarray (CMA) test is different in that it allows us to see smaller genetic changes than can be seen by looking at the karyotype.  These changes are often referred to as Copy Number Variants, or CNVs.  A CNV is a segment of genomic information that has been duplicated or deleted.  So think of this as the equivalent of a few books on a shelf that have been removed (a deletion) or there are multiple copies of the same few books on the shelf (a duplication).  

 

Sometimes CNVs are known to cause genetic conditions resulting in health and developmental concerns.  Sometimes we are unsure what will result with certain CNVs.  Other times we see CNVs that appear to be completely normal variations, in which case we do not think they will cause any health or developmental concerns.  

 

With the karyotype, we usually have a pretty good idea of generally what to expect when we find  an extra or missing chromosome, or when there is a large change in the structure of a chromosome.  

 

But with CNVs, the meaning of the results is often much less clear.  Sometimes a CNV will be reported as being of “uncertain significance” which means that we just don’t know enough about it yet to determine if it is likely to cause health and/or developmental concerns or not.  Sometimes we find a CNV that we think will cause a health problem, but exactly what that will be or how severe it will be is unknown.  Sometimes when there is uncertainty, it will be recommended to test the parents to see if ether of them also have the same CNV.  This may provide some reassurance if a parent has the same CNV and they are in good health.  But we know there can be differences in how these variants are expressed from parent to child.  Furthermore, there can be situations in which a parent learns they also have the variant identified in the baby or their child, and rather than providing reassurance it leads to more questions.  Is there something wrong with me?  Did I pass on something harmful to my baby?  

 

Formerly, the American College of Obstetricians and Gynecologists recommended chromosomal microarray be considered  as a prenatal testing option in instances where there were abnormalities seen on ultrasound.  This is because in about 6% of those cases, CMA would provide an explanation that karyotype could not.  In other words, there would be a CNV (a few extra or missing books on a shelf) that karyotype could not see that could provide an explanation for the ultrasound findings.  

 

Research has found that in cases where ultrasound and karyotype are normal, a significant CNV that is believed to be likely associated with some health or developmental effect will be seen in 1.7% of cases.  Considering this, ACOG now recommends that CMA be made available to ALL women considering diagnostic testing such as amniocentesis.  

 

This means that more babies will be diagnosed with genetic conditions that would not have been identified from the traditional karyotype test.  It also means that many more families will be receiving information about their babies that may be unclear.  As genetic tests become increasingly complex, it is of utmost importance that women and couples receive pretest genetic counseling so that they can really understand all of the potential benefits, drawbacks, and uncertainties inherent with these tests.  

New Practice Guidelines for Prenatal Genetic Testing


Important guidelines in the area of prenatal genetics were recently published in the journal, Obstetrics and Gynecology (aka “The Green Journal”).  The American College of Obstetricians and Gynecologists (ACOG) and the Society of Maternal-Fetal Medicine (SMFM) collaborated on two new important references:  Practice Bulletin #162 Prenatal Diagnostic Testing for Genetic Disorders, and Practice Bulletin #163 Screening for Fetal Aneuploidy.  These are the first updated guidelines on these topics in nearly a decade and each offers a thorough assessment on currently available prenatal testing technologies as well important points to consider for any provider who provides prenatal care.  They are companion pieces and we encourage you to read them in their entirety when you have an opportunity. Below we summarize the highlights.  
Practice Bulletin number 162:  Prenatal Diagnostic Testing for Genetic Disorders

In 2007 ACOG shook things up by stating that all women (not just those deemed to have a higher chance to have a baby with a genetic condition) should have the option to undergo prenatal diagnostic genetic testing.  This recommendation did not change with the updated guidelines.  ACOG/SMFM still contend that all women should have the option of prenatal testing, including diagnostic tests such as amniocentesis and chorionic villus sampling (CVS). What has changed are the number of prenatal testing options.  With a growing number of testing choices, the decisions faced by expectant patients and couples are more complex than ever before. From the guideline:  

 

It is important that patients understand the benefits and limitations of all prenatal screening and diagnostic testing, including the conditions for which tests are available and the conditions that will not be detected by testing.”  

 

This is a great expectation!  Certainly even providers who think about these tests day in and day out struggle in deciphering the different benefits and limitations of each of these tests, as well as the variable conditions that each test may detect!  While it is perhaps a lofty goal, Genetic Support Foundation agrees wholeheartedly with the importance of this statement above. It is essential that individuals be provided enough information and context to make informed decisions when it comes to prenatal genetic testing.

Key updates with guideline #162:

  • Chromosomal microarray analysis should be the primary offered diagnostic method when ultrasound indicates structural abnormalities in the fetus.  Microarray should be made available to any patient choosing to undergo invasive diagnostic testing.  
  • New research indicates that the risk for miscarriage associated with amniocentesis and chorionic villus sampling may be lower than previously reported.  In the hands of experienced providers, the guideline suggests a miscarriage risk of 0.1% – 0.3%.  

Practice Bulletin number 163:  Screening for Fetal Aneuploidy

This document provides an excellent overview and nice comparison table of the various prenatal screening tests available for the assessment of chromosome conditions in the fetus. Technologies reviewed in detail include serum screening such as the triple and quad screening, combined screening such as first trimester screening, integrated screening and sequential screening and the more recently available cell-free DNA screening. The most important take away is that choices about prenatal screening options are complex.  

 

No one screening test is superior to other screening tests in all test characteristics. Each test has relative advantages and disadvantages. Screening for aneuploidy should be an informed patient choice, with an underlying foundation of shared decision making that fits the patient’s clinical circumstances, values, interests, and goals.”  

 

Key points with guideline #163:

  • Women who have any negative screening test should not be offered subsequent screening tests. Parallel testing with multiple screening tests should not be done.
  • Cell-free DNA screening is not a replacement for diagnostic testing.  
  • Any woman with a positive screening test including traditional serum screening or cell-free DNA screening results should be offered follow-up genetic counseling and the option to undergo diagnostic testing.
  • Women who undergo preimplantation genetic diagnosis should be offered aneuploidy screening and diagnostic testing.
  • Cell-free DNA screening for microdeletions is not recommended.  
  • Cell-free DNA screening is not recommended for multiple pregnancies.  

In the future, we will explore some points raised in these two guidelines in more detail including, the potential for toxic knowledge with chromosomal microarray testing and why genetic counseling in these situations. We will also explore the potential issues with predicting a lower risk of miscarriage associated with diagnostic testing at a time when some studies suggest that the risk may actually increase as fewer women undergo these tests and providers become less practiced in performing the procedures.  

One point that we strongly agree with is this:  

“Screening for aneuploidy should be an informed patient choice, with an underlying foundation of shared decision making that fits the patient’s clinical circumstances, values, interests, and goals.”  

Whether you are are patient, a healthcare professional, or policy maker, we at the Genetic Support Foundation hope that you will find information here on our website that will help support this goal.

Genetic Testing Catastrophe


Genetics and healthcare is a popular topic for television drama.  The ethical conundrums that arise with genetic testing coupled with the rarity of genetic conditions make for interesting stories.  As a genetic counselor, I often notice holes in the plot or inaccuracies in the way in which a genetic condition is portrayed or how a genetic test is discussed.  As much as I wish I could say that they got it wrong with the genetic testing story line in the sitcom, Catastrophe, writers and co-stars Rob Delaney and Sharon Horgan tell a story that seems so painfully true to life that I believe it must be based on lived experience.

Catastrophe tells the story of two 40-something singles who decide to make a go of family life together after a brief affair that results in an unplanned pregnancy.  The second season of Catastrophe will be available on Amazon on April 8th.  For those of you that have not yet watched the first season, it is a great time to get caught up.  Spoiler alert for those who would like to watch the show first – read no further.  Also a warning for those who are sensitive, this show earns its “Mature Audience” rating and they dive right into the adult content.    

The fourth episode of the show (season 1) tells Sharon’s prenatal genetic testing story.  She is first made aware that she had prenatal genetic screening at the time the doctor delivers the test results:  a 1 in 50 chance that the baby she is carrying has Down syndrome.  When Sharon replies that 1 in 50 doesn’t seem “that bad”, the doctor is quick to counter that this is “high risk” and he recommends an amniocentesis.  She refuses and rushes out of the office, beginning an emotional roller coaster ride.  

Just as Sharon seems to be settling from the initial surprise of the test results and their presentation, she gets a call from the obstetrician’s office.  In fact her test results were incorrect; the risk is actually 1 in 25.  With this, she is overcome by anxiety and decides to move forward with the amniocentesis, a diagnostic test that can tell her with certainty if the baby does or does not have Down syndrome. The amniocentesis results return showing that the baby does not have Down syndrome, news that she learns on a cell phone call while in the grocery store.  This news causes Sharon to lay down right in the middle of the grocery store aisle, perhaps to show the release of stress that came with the uncertainty of the wait for results.  The viewer is left to imagine much of what must have been going through Sharon’s mind with all of this testing.  What would she have done if the results showed that the baby did have Down syndrome?  While her emotional turmoil is obvious, Catastrophe leaves the answer to this question a mystery.   

I am grateful to Sharon and Rob for bringing this topic into the light with depth, wisdom, and wit.  I know so many have been through situations such as this but usually experience it all very privately.  Rob and Sharon revealed so many misunderstandings that may come up regarding the tests themselves and also expressed the real concerns and questions that expectant parents often have about what it would mean to have a child with a disability who would need more support and resources.  While they tackled these questions, I appreciated the way in which they approached discussions about disability, challenging stereotypes and preconceived notions.  So often when Down syndrome is discussed  in a prenatal context, information is presented in a negative and clinical manner.  With honesty and humor, Rob ponders whether some of Sharon’s negative assumptions are misinformed and recounts some of his past experiences that bring normalcy and humanity to the conversation.   

Sharon’s genetic testing experience is far too common, but also not at all the way it should be.  It is distressing that with decades of prenatal testing for Down syndrome, healthcare systems don’t do a better job of supporting women and couples.  High quality and up-to-date information about the tests and the conditions that they screen for is essential.  Equally important is creating the opportunity to help people find their way to put this information into the context of their own lives.  As prenatal genetic testing options expand to include an increasing number of conditions, and the commercial market forces that seek to increase use of these tests grow, supporting patients through these tests will be increasingly complex and also more important than ever.

In an ideal world, we would have seen Sharon and Rob given the opportunity to receive objective information about their prenatal testing options:  what the tests are, what they test for, what they can tell you and the possible next steps depending on the results.  The couple would have been encouraged to explore their values about these tests and their implications with each other before having any screening tests.  They would have been able to discuss their preferences with their doctor without judgment or coercion to choose a specific path.

If they elected to undergo prenatal screening, hopefully they would have had an opportunity prior to that decision to learn more about Down syndrome and the other conditions being screened for before getting those test results back.  And when the doctor delivered those screening results, ideally he would have done so in an objective manner leaving his subjective interpretation of the level of risk out of the conversation.  It would have gone something like this, “Sharon, I have the results from your genetic screening back.  They show that the chance that the baby has Down syndrome is 1 in 50 which is the same as 2%.  That means there is a 49 in 50 chance or 98% chance that the baby does not have Down syndrome.  If you would like to know for sure, you can consider undergoing a diagnostic testing known as amniocentesis which can tell you yes or no with certainty.  However, amniocentesis does have a small risk of miscarriage….”  And hopefully, prior to undergoing amniocentesis she would meet with a genetic counselor who could talk through all of this in more detail, to provide emotional  support to Rob and Sharon, to answer questions, explore misconceptions, hopes and fears, and to provide resources.

While in Catastrophe, fiction mirrors reality, it is important to know that individuals should always be given a choice as to whether or not this testing is done during pregnancy.  This is not just my opinion or that of the Genetic Support Foundation – it is supported by policy and practice guidelines throughout the United States, Canada, and Europe, including the UK where Sharon and Rob experienced prenatal care. Let’s continue to work towards improving the lived experience of women who are faced with decisions regarding prenatal testing.  Shows such as Catsorophe certainly help in that goal by shining a light to bring some awareness to these issues.  Healthcare professionals, must continue to strive to support informed decisions about these screens by providing objective information and resources.  

New NIPT Committee Opinion- Joint Statement from ACOG and SMFM!


A long anticipated joint statement regarding noninvasive prenatal testing (NIPT) from The American College of Obstetricians and Gynecologists (ACOG) and SMFM is now available, Committee Opinion #640 Cell-free DNA Screening for Fetal Aneuploidy.  It is thorough and provides the guidance that many healthcare providers and organizations have been waiting for as they navigate how to responsibly implement this technology into practice.  Here are the highlights:

  •  The decision about whether or not to undergo prenatal genetic testing should be a choice
    •  All patients should be counseled as to the risks, benefits, and alternatives of various methods of prenatal screening and diagnostic testing, including the option of no testing, should be discussed with all patients.
  • NIPT is NOT the most appropriate first-line screening for women in the general obstetrics population
    • Screens such as Integrated Screening for the general population have advantages over NIPT such as the ability to screen for a broader array of conditions that may affect the fetus
    • Disadvantages of NIPT in the low risk population are a lower positive predictive value (PPV) with the testing
  • Routine cell-free DNA screening for microdeletion syndromes should NOT be performed
    • Screening for these microdeletions has not been validated in clinical studies
  • NIPT is NOT recommended for women with multiple gestations
    • More studies are needed, however ACOG/SMFM note that any screening that depends on maternal blood will not be able to distinguish between fetuses.
  • Parallel or simultaneous testing with multiple screening methodologies for aneuploidy should NOT be performed.
    • This practice is not cost-effective and may lead to conflicting results
  • Management decisions, including termination of the pregnancy, should NOT be based on the results of the cell-free DNA screening alone.
    • Diagnostic testing is needed to confirm positive NIPT results
  • “No Call” results indicate a higher chance of a chromosome conditions and patients who receive these results should be offered further assessment:
    • When results are not reported, indeterminate, or uninterpretable, patients should be referred for genetic counseling and offered comprehensive ultrasound evaluation and diagnostic testing
  • NIPT should not be performed solely for early sex identification of the fetus.
    • Patients should be counseled that this screening also assesses the risk of the chromosome conditions and if that information is not desired, the screening should not be performed.

The full guideline can be accessed here and we recommend that you read it in its entirety as it is chock-full of useful information.  They also provide a link to useful resources for clinicians including materials produced by the National Society of Genetic Counselors (NSGC).  Kuddos to ACOG & SMFM as these guidelines are thorough, thoughtful and patient-centered.  So much of the marketing from NIPT companies is aimed at increasing uptake by expanding the market to the general obstetric population and increasing the number of conditions screened for.  Additionally the companies are directly advertising to patients that these “simple blood tests” provide information about the sex of their baby without highlighting the uncertainty that can sometimes arise from this testing.  This document provides an outline of the important risks, benefits and limitations of NIPT and will give confidence to providers to know how to use this test wisely, in the best interest of quality patient care.

To review what other professional organizations are recommending regarding NIPT, checkout Genetic Support Foundation’s NIPT “Cliff’s Notes”.  And, to stay connected, sign up to receive updates from GSF!

Introducing Carla from the Genetic Support Foundation Team!


First off, let me introduce myself. My name is Carla, and I am an integral part of the Genetic Support Foundation (GSF) Team. Well, at least the idea of “me” has become near and dear to the folks at GSF. I am actually the star of their new video on noninvasive prenatal testing (NIPT). But, I am really much more than that; I represent women who are pregnant and trying to sort through all of the prenatal testing options out there. How is one supposed to make these decisions? Pregnancy is hard enough with all of these hormones and food cravings. I have been driving through the Taco Bell drive-through every. Single. Day. They know me by name and my order by heart; I digress.

So, since I am going to be 35 at delivery, one of the tests my doctor offered me is noninvasive prenatal testing (NIPT). You may have heard this test called by other names such as NIPS, cell free DNA testing or brand names such as, Panorama, MaterniT21, Harmony, Verifi, informaSeq, etc. I guess this is a newer prenatal screening test, as I didn’t know about it during my last pregnancy in 2010 (apparently it came out in 2011). Last time around I decided not to have any screening because I was 30 and I wasn’t really worried. But this time things feel different, and everyone keeps talking about my age! What’s up with 35?

Anyway, here I am trying to weigh all of my options…should I have NIPT or should I consider going straight for more definitive answers and have a test like CVS or amniocentesis? Or, am I ok skipping all of them and just waiting until the baby is born to know if he/she has a genetic condition?

My partner and I just met with a genetic counselor, which was super helpful. The genetic counselor was able to help us by not only explaining all of our testing options, but providing us with some questions to think about to help us decide what testing, if any, was right for us given our beliefs, values, personality and needs. Genetic counselors don’t tell you what to do, they simply give you the information necessary to help you make a decision that is right for you!

Another thing that was helpful to me was being a part of the NIPT informational video produced by GSF that I mentioned earlier. You should really check it out! This video explains how NIPT works, what conditions it can screen for, what results can and cannot tell you and how to decide if this test is right for you.

I’m still in the process of figuring out my prenatal testing plans, but I know I am on the right track and the information at www.geneticsupportfoundation.org is equipping me to make a decision that is right for me!

On behalf of the GSF Team, thanks for reading Our 2 Strands!

Let’s stay in touch,

Carla

P.S. Send a comment to GSF through our Get Connected page if you can guess why my name is Carla! First person to guess correctly (who isn’t related to someone on staff) will win an official Genetic Support Foundation T-shirt!

99% Accurate: What does it really mean?


Noninvasive Prenatal Testing (NIPT) screens for a handful of genetic conditions.  The detection rate of NIPT is high for many of these conditions, especially for Down syndrome.  Many labs boast that  their NIPT is “greater than 99% accurate”.  So what does “>99% accurate” really mean?  Let’s start first with what it does not mean:

A positive NIPT result rarely ever means that there is a greater than 99% chance that the baby has a genetic condition!

In fact, if your NIPT result is positive, the chance your baby actually has the condition is usually far less than 99%. So how do we answer the question:  what is the chance my positive result is a true positive result?  For this we need to know the Positive Predictive Value (PPV).  Learn more about PPV here.

Are the claims of 99% accuracy false advertising?  Actually, they are not false at all, but it is important to keep the magnitude of these claims in perspective.  Accuracy refers to the proportion of all test results that are correct, both positive and negative results.  Since NIPT screens for relatively rare conditions, most results will be negative indicating a low chance for the conditions screened and indeed they will be true negatives. The rarity of the conditions screened makes achieving 99% accuracy quite attainable!

Interestingly, if one were to write “negative” on a piece of paper and give it as the result to every single patient, it would be a “99% accurate” test result when testing for a condition that is present in less than 1 out of 100 people.

In this case of just calling all results negative, 99% of women would have true negative results: The given test predicted that their baby was unaffected and in fact the baby is unaffected.  Of course, unlike NIPT, which has a high detection rate, a method that assigns a “negative” result to every patient across the board is not at all precise and the detection rate of such a screen is a big fat zero. This example is used merely to illustrate the point that claims of >99% accuracy aren’t necessarily anything to be impressed by.

What is more important is the sensitivity (detection rate) and specificity (false positive rate) so that personalized predictive values can be calculated for each individual. These are the numbers that will allow an individual to determine the chances that their negative result is a true negative (negative predictive value) or that their positive result is a true positive (positive predictive value).

Because most women start off with a very small chance to have a baby with any of the conditions for which NIPT screens, the negative predictive value for NIPT is high, usually >99%: most women will have negative results indicating that the chance of a having a baby with any of the screened for conditions is low and most of these women will have true negative results since the conditions are generally rare.  On the other hand, the likelihood that a positive NIPT result is a true positive result (positive predictive value) is often to be far less than the coveted 99%.  For more information about NIPT, click here.

What’s in a (noninvasive) Name?


Nearly four years into the use of this new prenatal screening test, and the medical community is still trying to figure out what to call it.  When Sequenom first launched the MaterniT21 screen for Down syndrome in 2011 this type of testing was labeled “Noninvasive Prenatal Diagnosis” or NIPD.  This was coupled with a tremendous amount of hype that NIPD would replace the need for invasive diagnostic testing such as amniocentesis.  It didn’t take too long before we realized that to include “diagnosis” in the test name was overstated, so the name was soon dialed back to “Noninvasive Prenatal Testing” (NIPT).  But many, most notably the American College of Medical Genetics and Genomics (ACMG), suggested that calling this “testing” did not go far enough to highlight the limitations and proposed that this technology be referred to as “Noninvasive Prenatal Screening” (NIPS).   The Prenatal Information Research Consortium recently has used the term, Noninvasive Prenatal Genetic Screening (NIPGS).

Many in the field have discomfort with any name that includes “noninvasive” as the word, in and of itself, implies that this test should be compared to invasive tests and not to other screening tests.  Aren’t all previously available aneuploidy screening tests (first trimester screening, sequential screening, Quad screen, etc.) noninvasive after all?

Recent publications from the Society of Maternal Fetal Medicine (SMFM) and the American College of Obstetricians and Gynecologists (ACOG) refer to the test as something along the lines of, “aneuploidy screening with cell free DNA (cfDNA)”.  This solves the “noninvasive” issue however all stated it is quite a mouth full.  Additionally, it will be technically problematic as the list of screened conditions moves beyond aneuploidy.  And to call it only “cfDNA screening” may be confusing as new applications beyond prenatal screening are developed for cfDNA, such as the emerging ‘liquid biopsy‘ for cancer.

The National Society of Genetic Counselors (NSGC) Prenatal Special Interest Group recently surveyed members regarding what they call this test. This survey  found that NIPT was the front runner with 45% of the vote as compared to 31% using NIPS and 23% using cfDNA.  Another question to consider is:  what name are patients most familiar with? Our survey of patient forums reveals that many patients seem to know these tests by specific brand names, which may be attributed to the successful direct to consumer marketing campaigns of the testing companies which prompt patients to “ask your doctor for the Harmony/verifi/Panorama/MaterniT21 Plus test by name!” Anecdotally, many patients have come to know this test as simply, “that new gender test”.

Developing educational resources regarding prenatal tests is a high priority for Genetic Support Foundation.  As we developed content for our website and a patient education video about the NIPT/NIPS/NIPGS/cfDNA test, we spent a lot of time debating what to call this technology.  We ultimately landed on NIPT for two reasons:

  1. Genetic Counselor Survey Results– Based on the recent NSGC  survey, NIPT is the term most used  by genetic counselors.
  2. Social Media Review– we knew we wanted to use social media to promote our resources and information about this test, and NIPT seems to be the most used in that realm.  There is a good reason for that.

In the past, I have been a strong advocate for the term noninvasive prenatal screening.  I would always pronounce each individual letter N-I-P-S. Recently at a genetics conference, I heard someone call it “Nips” and my jaw dropped.  How had I failed to make the connection between the NIPS acronym and a slang term for a body part?  The connection was set when I searched for #NIPS on twitter.  Needless to say, I didn’t find much about prenatal screening – but instead found a lot of people talking about cold weather, underwear (or lack thereof), and photos of non G-rated fashion!  A crash course in the importance of word choice for social media to be sure!

So for now, GSF has made the decision to stick to NIPT, but we will stay flexible and see where this interesting ride takes us.  Who knows, maybe some day when we type in NIPS in a twitter  search something G-rated involving prenatal screening will be near the top of the list.

While we have you here, take a moment to check out our video on NIPT, which began our inner turmoil on what to call this test.   We believe  this video provides a good overview of the testing – what it can and cannot tell you and also what women should think about prior to deciding whether or not to undergo NIPT, NIPS, NIPGS, cfDNA testing or whatever the heck you call it :-).

-Katie Stoll

 

P.S. After watching the NIPT video please complete the post-viewing survey!

Why Genetic Support Foundation?


Welcome to Genetic Support Foundation’s new website. We are thrilled that you found us and are honored to have you here learning more.  We are a newly formed, independent and charitable nonprofit organization.  Our mission is to provide up-to-date, objective genetic information to patients, providers and healthcare organizations, supporting those in need of genetic services and facilitating the adoption of best genetic practices. This is a big and bold idea, but we believe in this mission and its importance as genetics increasingly becomes a part of mainstream medical practice.

At this point, you may be thinking to yourself, there are a plenty of resources and organizations out there regarding genetics and genetic education, why one more?  What does Genetic Support Foundation have to offer beyond what is already available?  And really, what can an independent nonprofit do that isn’t already being done?

Great questions; we are glad you asked.  When Jon Wolff M.D., founder of Genetic Support Foundation, approached me over a year ago with a dream of starting a nonprofit devoted substantially to genetics education, I had to take some time to think about a critical question….”Is there a real need?” Every day, I become more and more convinced that yes, there is a need for an organization like Genetic Support Foundation- an independent nonprofit whose main agenda is to provide objective and up-to-date information on genetic technology and genetic testing for patients, providers and healthcare organizations.

Why do I think there is a legitimate need?  I’ll give you a practical example. One of the first things I did when I was thinking about accepting the position as executive director of Genetic Support Foundation was to look online at what information was available for patients regarding one of the newest prenatal screening tests, noninvasive prenatal testing, NIPT (or NIPS, cell free DNA testing, whatever you choose to call it).  A quick Google search was quite telling.  At that time, about half of the items that popped up on the first page of the Google search were from industry, the Commercial Laboratories offering NIPT (according to Search Engine Journal, 75% of people don’t move past the first page search results).  Indeed, the patient educational information from the Commercial NIPT Laboratories was beautiful, clean, easy-to-navigate and seemed to be up-to-date and accurate.  However, these resources may reflect industry bias. Within the information from other sources, it was hard to find answers to some of the complicated aspects of this test.  It was then that I knew there was a gap to fill.

Let’s take a look beyond NIPT. With next generation sequencing upon us, direct-to-consumer testing now available, and whole genome sequencing costs coming down rapidly, genetics is increasingly becoming a part of mainstream medicine.  Next generation sequencing holds great promise when it comes to the possibility of diagnosing diseases and developing treatment strategies. But… the technology does bring potential caveats such as incidental findings and variants of unknown significance that can cause worry and anxiety rather than provide clarity to individuals or families who are searching for answers.

There is no doubt that these medical breakthroughs are changing the way we are diagnosing and eventually will be treating diseases in all areas of medicine.  We are excited about the future of medicine and how genetics will play a leading role going forward. However, we believe it is important for patients and providers to understand both the promise and the limitations of these new technologies. This information will empower patients to make informed choices and allow providers a balanced and accurate understanding of what the technology can offer.

The question is not about IF newer genetic tests are a great advancement in science and technology but rather, WHO should providers and patients look to for education regarding advances in genetic testing and genetic technology? Commercial Laboratories are currently leading the way on educating providers and in turn, patients, about newer genetic testing and technology. This makes sense; they have developed the tests and they know them inside and out. The point where things get tricky is when we start considering the possible conflict of interest given the fact that they are selling and making a profit off of  the tests that they are educating patients and providers about.  If such education is primarily provided by those who stand to profit from the product, it is feasible that the product limitations may be understated, resulting in misinformed providers and patients.

Although Commercial Laboratories are some of the pioneers in the field of genetic testing, should their sales teams be the primary educators of providers and patients when it comes to genetic technology, genetic testing and the genetic conditions they test for?

This is a question for consideration; this is not an indictment of Commercial Laboratories, they are providing valuable technology and marketing it as one would expect.  Perhaps there needs to be more voices at the table, informing patients and providers from a diverse set of motivating factors?

Genetic Support Foundation believes that we are at an important juncture where the need for objective voices in educating providers, patients and healthcare organizations in the realm of genetic testing and genetic technology is critical. Our mission at Genetic Support Foundation is to do just that.

If the mission of Genetic Support Foundation and what you have read resonates with you, will you join our cause?  You can get involved with Genetic Support Foundation in the following ways:

  • Help us research and create more content for our website by giving of your time and expertise…to do this simply visit our Get Connected page!
  • Help us financially by Donating to Our Cause
  • Spread the word by sharing information about Genetic Support Foundation through social media!

Thank you for your checking us out!  The Genetic Support Foundation Team looks forward to providing you with the information you need to move confidently into the future of genetics and genetic testing, so you can make informed decisions about genetics as it relates to you and your health or the health of your patients or members.

Best,

Heidi Lindh, MS, CGC
Executive Director
Genetic Support Foundation