Honorable Mention Excerpts



Ilan Bocain

Yeshiva University of Los Angeles, Boys High School
Teaher: Vickie Bellomo

Diagnosis of HD is based on a positive family history of HD, classical clinical manifestations of HD, and genetic testing for expansion of 36 or more CAG-unit repetitions in the gene, HTT, which codes for a protein named huntingtin...

...This testing is over 99 percent sensitive, meaning that the likelihood of a positive result of a test in an HD affected individual is extremely high. The test is considered 100 percent specific when the lower limit for a positive test is set at 40 CAG repeats, meaning that one who does not have HD has a very high likelihood of testing negative. Alleles containing an intermediate number (27-35) of CAG repeats confer a possible risk of HD (Bean et al., 2014). 

I would like to offer a position against the American Society of Human Genetics’ 2015 statement (Botkin et al., 2015) that “adolescents should be encouraged to defer predictive or pre-dispositional testing for adult-onset conditions until adulthood because of the complexity of the potential impact of the information at formative life stages”.

As an adolescent myself, my sense is that, with the proper guidance of a knowledgeable and empathetic genetics counselor, an adolescent should be able to make a free and open choice as to whether to undergo predictive genetic testing.

 

Zanzan Brink

Oregon Health & Sciences University Partnership for Scientific Inquiry Program
Teacher: Richard Rosenbaum

Genetic testing for Huntington’s disease has been accessible to patients for longer than
any other test for an adult onset genetic condition. (Meiser/Dunn 2001)...

...Despite ASHG’s recent statement, adolescents should not be discouraged from genetic testing for adult onset conditions for ethical and psychological purposes. Autonomy, one of the principles of biomedical ethics, affirms adolescents’ rights to know about their own genetics....

...As stated by The Clinical Genetics Society in the United Kingdom, although the presymptomatic genetic testing of adolescents for an adultonset disorder should generally not be undertaken, adolescents have the right to request testing for themselves as autonomous adults. (CagaAnan 2012).

Additionally, Bettina Meiser and Stewart Dunn have reviewed many studies which conclusively demonstrated that patients who choose to receive genetic testing experience reproductive and psychological benefits which patients who decide against testing do not...

...One study used a control group to compare psychological data for patients who received testing versus patients who decided against it, both carriers and noncarriers. The group which did not receive testing showed a decline in wellbeing (P < or = 0.045), while the groups which received positive and negative results showed less depression and higher wellbeing scores than the group which did not receive testing.

 

Sanjana Eranki

Smithtown High School East
Teacher: Maria Zeitlin

Knowing one’s fate is like being in an inescapable prison; one is constantly plagued with fear of the future. This is especially true for those who undergo childhood genetic testing, which may help diagnose diseases before the onset of symptoms, but can be extremely mentally burdensome...

...Caused by a defect in a single gene, Huntington’s Disease is a neurodegenerative disorder that causes loss of cognitive ability, imbalances during movement, and behavioral decline before leading to death [3]. There is a 50% chance that children will inherit this disease if a parent is afflicted [7]. While some parents request to test their children to see whether they inherited the gene, it is more beneficial to the childrens’ psychological stability to allow them to make the decision later, when they are mentally ready...

...Many scientists and doctors agree that negative psychological effects follow regardless of the results [1].The result of the HD test may be enough to push the patient into depression and place a heavy burden on them. After disclosure of the results, people were found more likely to succumb to depression and hopelessness [6]. Those who believed that their results were going to be normal experienced many difficulties after knowing their result was positive. Alternatively, those who found that their result was negative also experienced survivor’s guilt if a relative’s result happened to be positive[8]. When presented this information at a young age, adolescents are plagued with uncertainty[4]. For these reasons, scientists say that adolescents should defer testing for HD until adulthood.

 

Norah Gordon

Bergen County Academies
Teacher: Carol Zepatos

Meghan Sullivan was only two years old when her father was diagnosed with Huntington’s Disease, or HD. Growing up, she knew that there was a 50% chance of her also developing the disease later in life. She began to show symptoms when she was just a teenager, and was diagnosed with HD when she was nineteen...

...Meghan did not need to be predictively tested for HD, but if she had been, her life so far would not have been much different...

...In the case of Huntington’s disease, adolescents at risk should undergo predictive genetic testing and be aware of their results, even if it could have a large impact on their emotional state. The American Society of Human Genetics, or ASHG, released a statement regarding this topic, which states that adolescents should not take a predictive genetic test for adult-onset conditions until adulthood due to the impact a positive result could have on one. In a study done by the Manchester Centre for Genomic Medicine, where young people between the ages of 15 and 25 years were tested for HD, hereditary breast cancer, or familial cardiomyopathy, “none of the participants expressed regret at having the test at a young age” (3). One of the participants, a young woman who tested positive for HD, stated, “There are negative things but focus on the positive which helps a lot. You might not get it young. I mean I was worried that I was . . . but I might not” (3).

 

Zoe Klein

Northern Secondary School
Teacher: Danielle Gauci

The issue of testing adolescents for genetic diseases that would not affect them for decades is one of the most controversial in the field. Recently, the ASHG released a statement discouraging adolescents from genetic testing for adult-onset conditions. This statement represents a practice that could benefit children at risk for diseases later in life, like cancers caused by faulty BRCA genes...

Women with the more severe BRCA1 form have a 55%-65% chance while women with BRCA2 have a 45% chance of developing breast cancer by age 70. By the same age, BRCA1 carriers have a 39% chance and BRCA2 carriers an 11%-17% chance of developing ovarian cancer (BRCA1 & BRCA2: Cancer Risk & Genetic Testing, 2015)...

...The psychological repercussions of genetic testing can be devastating to a young mind. The BRCA1/2 test is not conclusive. A positive BRCA1/2 result does not guarantee a patient will develop cancer and a negative result does not guarantee one will not. This ambiguity may lead to anxiety about the possibility of getting the disease. Especially in adolescence, a time where identity development is critical, a deadly diagnosis could distort self image...

...In the case of breast and ovarian cancers caused by BRCA mutations, there are preventative measures. A woman’s chance of developing cancer is reduced by 90% after a mastectomy (Hartmann et al., 2001) and by 80% post oophorectomy (Finch et al., 2014). However, since cancer does not appear until adulthood- the average age of diagnosis is 42 for breast and 52 for ovarian cancers (Brose et al, 2002)- this does not apply to adolescents, so there is little benefit to undergoing prophylactic surgeries until adulthood.

 

Stacy Okin

North Shore Hebrew Academy High School
Teacher: Amie Roberts

Whether teens should be tested for adult onset genetic diseases is a huge ethical controversy. The American Society of Human Genetics holds, “Adolescents should be encouraged to defer predictive or pr-dispositional testing for adult-onset conditions until adulthood...” The statement may hold true for many adult onset diseases, but not for Long QT Syndrome (LQTS), a genetic heart condition...

...There are multiple specific mutations located at “loci on five chromosomes” (Fuster & Hurst, 2004). Knowing exactly which mutation the patient has from an early age will help in the treatment of the disease as well as predicting the severity of the heart arrhythmias...

... Not only will adolescents who undergo predictive testing be able to seek appropriate treatment for their condition, but also they can reduce their risk of cardiac failure by refraining from possibly harmful activities, such as strenuous physical activity.

 

Elizabeth Phelan

The Davidson Academy of Nevada
Teacher: Martin Braik

Huntington’s Disease (HD) is one of the first hereditary diseases scientists were able to detect through genetic testing...

...The disease is caused by excessive CAG triplet repeats within the huntingtin gene on the arm of chromosome four. Healthy alleles normally possess CAG repeats, but individuals are only affected with HD when one or both of their alleles has 41 or more repeats (Walker 2007). According to Kremer et al. (1994), detection of excessive CAG repeats is a decisive indicator of having inherited the disease, and genetic testing for late-onset HD is based mainly around the detection of these repetitions...

...This test is extremely accurate and reliable in the vast majority of cases, with a margin of error of only ± 1 triplet (Margolis and Ross 2003). However, due to the uniqueness of each patient’s genes, there may be a very rare error that results in the genes appearing to carry two copies of the healthy huntingtin allele, causing inconclusive results...

...Confronting the harrowing possibility of developing a terminal disease in the future would likely provoke significant changes in career and family plans. Some experts have argued that adolescents should be barred from HD testing until adulthood, since a positive result may decrease the quality of life by clouding judgment and removing the possibility of a happy future even before the disease manifests...

...Despite the undeniable difficulties a diagnosis would bring, it is morally imperative that people have the choice to access information about their health, regardless of their age...

...Some members of the medical community believe that adolescents shouldn’t access testing out of concern for their safety. Many experts maintain that due to the high suicide rates that accompany receiving positive results, preventing adolescents from testing is a means of protecting them. This stance appears reasonable at first glance; according to Almqvist et al. (1999), there is an immediate jump in suicide rates among individuals who test positive for the disease. However, a subsequent study conducted by Almqvist et al. (2003) finds that most psychiatric effects of testing positive wear off within five months of testing.

 

Sarah Sachar

Winston Churchill High School
Teacher: Virginia Brown

Myotonic Dystrophy 1 (DM1) is a genetic disorder caused by an expanded cytosine thymine guanine (CTG) repeat in the intron of the dystrophia myotonica protein kinase (DMPK) gene (Bird, 2013)...

...There are three manifestations of the disease: mild (50-150 CTG repeats), classic (~100~1000 CTG repeats) and congenital (1000³ repeats) (Bird, 2013). While congenital DM1 is detectable from birth to ten years of age, both mild and classic DM1 are detected later in life (Bird, 2013). In the cases of mild and classic DM1, the recommendation from the American Society of Human Genetics on pediatric genetic testing should be heeded because no specific treatment exists and the diagnosis of DM1 causes unnecessary stress for the child and their family.

There are several molecular diagnostic tests that are predominantly used to diagnose DM1: polymerase chain reaction (PCR), triplet-repeat primed polymerase chain reaction (TP-PCR), and southern blotting of long-range PCR-products or of genomic DNA (Kamsteeg et al., 2012)...

...TP-PCR is a cheaper, more efficient manner to detect larger expansions and confirm DM1, yet it leads to false negatives in 3%-5% of DM1 cases (Dryland, Doherty, J. Love & D. Love, 2013)...

...I agree with the ASHG’s position on pediatric genetic testing for DM1 because I believe that it is unjust to subject adolescents to the diagnosis of a chronic disease that lacks both a cure and preventative measures. Typically, testing of asymptomatic individuals serves to divulge the presence of the expanded repeat to those that have a family history of DM1. While alleviating stress for those who receive negative test results, a positive diagnosis may cause “depression, anger, loss of hope, despair and severe stress” (O’Sullivan Smith, Bennett & Bird, 2001). 

 

Arjun Somayazulu

Oregon Health & Sciences University Partnership for Scientific Inquiry Program
Teacher: Richard Rosenbaum

As you write, your hand shakes uncontrollably. Walking even the shortest distance is awkward and humiliating, and your forgetfulness in basic activities drives you to unimaginable despair. These situations are the everyday lives of people with Huntington’s disease, a debilitating neurodegenerative disorder that affects 6 in every 100,000 people (Pringsheim, 2012). With predictive gene testing for Huntington’s disease widely available, an important question arises: should adolescents be able to receive such testing given the potential consequences?...

...Given the wealth of information that genetic testing provides to an individual at a relatively high accuracy, it is unclear why current law prohibits adolescents from getting predictive gene testing. Adolescents should be able to receive predictive genetic testing for Huntington’s disease because of their rights under medical ethics, the psychological stress it may relieve in them, and the ability it gives them to develop coping strategies and plan their life with more certainty.

A central principle of medical ethics is autonomy, which defends the patient’s right to make their own decisions, regardless of the perceived risk associated with these decisions or the opinions of parents or genetic counselors...

...One study showed that teens from 14-18 years of age who lived with a family member who developed Huntington’s disease expressed interest in getting predictive gene testing for Huntington’s Disease (Sparbel, 2008).

Another reason that adolescents should get predictive genetic testing for Huntington’s disease early on is anticipation. Often times, the onset of a disorder in an individual is at an earlier age than for the affected parent...

...Opponents of predictive testing may argue that a positive diagnosis of Huntington’s disease in adolescents may lead to psychological damage. However, the anxiety caused by not knowing when there is an affected relative may also lead to significant psychological stress, as studies involving teens have shown (Sparbel, 2008).

 

Ruojia Sun

Stuyvesant High School
Teacher: Maria Nedwidek-Moore

In a time when we are constantly expanding our knowledge of genetics, genetic testing is playing an ever-increasing role in our diagnosis of hereditary diseases and conditions such as Huntington Disease (HD), a neurodegenerative disorder affecting 3 to 7 in 100,000 people of European descent, and a fewer percentage in other groups (“Huntington disease”)...

...Due to the disruption in quality of life caused by Huntington Disease, despite its rarity, it is at the foreground of attention with both medical researchers and the general populace. As a result, there have been many breakthroughs in the understanding and diagnosis of HD in the context of genetics...

...Historically, genetic testing for Huntington Disease has not been very accurate because the primers formally used in PCR did not have enough selectivity between CGG and CAG trinucleotides, thus, the test sometimes overestimated the number of CAG repeats. However, in 1993, a different combination of 6 primers that effectively singled out CAG units was adopted (Goldberg, Andrew, Clarke, and Hayden), making test results more certain. Unfortunately, there still exists a discrepancy of ±1 trinucleotide, due to possible error between the laboratory product and control samples in the last step of the procedure (Margolis and Ross). By taking into consideration this discrepancy and the fact that patients with 36 to 39 CAG repeats cannot confirm whether they will be affected by Huntington Disease, this test is almost 100% reliable for people whose results signify greater than 40 repeats or less than 35 repeats, which accounts for a majority of people being tested...

...For diseases where there are physical benefits to getting genetically tested at a young age, it is reasonable for adolescents to take advantage of this opportunity so that they can lead healthier and longer lives, despite potential developmental repercussions. On the other hand, there is no treatment that changes the course of Huntington Disease or delays the onset. Therefore, the advantage of receiving early treatment as a result of early diagnosis, which may be of paramount importance in battling diseases such as cancer, is not a factor that would encourage someone to get a pre-symptomatic test for HD (Nance, Myers, Wexler, and Zanko).