Question

How can genome sequencing help somebody decide whether to have a child?
A.
Genome sequencing will tell Miriam whether she is a carrier of the Tay-Sachs gene.
B.
Genome sequencing will tell Miriam that her children will have Tay-Sachs disease.
C.
Genome sequencing will allow Miriam's children to get gene therapy for Tay-Sachs disease.
D.
Genome sequencing will tell Miriam how closely-related she will be to her children.

Answer 1

Genome tests often identify sequence variants associated with adult-onset disorders. While this knowledge may, in adulthood, assist with medical care, it could be a profound and premature psychological burden to parents and children. It also fails to honor the child’s autonomy—their independent right to decide for themselves whether they want to have information about their future health revealed.
If your child is healthy, it’s worth questioning your motivations to test. Consider what are you looking for, and why. “In a healthy child,” says Hudgins, “you’re more likely to find inconclusive results that will cause you unnecessary anxiety.” For children with concerning symptoms or undiagnosed diseases, Hudgins suggests working directly with a medical care provider who understands the utility and limitations of the testing and who can interpret the results.
Consider the long-term privacy of your child’s (and your own) health information. Who will have access to the results of your child’s test, and how will those results be used? Companies’ privacy policies vary widely and can change over time, potentially leading to exposure of your child’s private health information. Parents should have concerns about the commercializing of personal genetic information similar to the way social media sites and search engines collect, store and share information about their users. Some direct-to-consumer genome testing companies reserve the right to use the personal health information that they gather during testing.
Genome tests are likely to identify “sequence variants of unknown significance”—results that may depend on the medical history of the family or other factors to be conclusive, which may depend on decades of future research that produces unexpected or unwanted results, or which may never be conclusive at all. Most doctors prefer to do specific genetic testing for patients based on known risk factors.
Finding a sequence variant of unknown significance in a child may be a signal to look at the genetic sequence of the parents, which can sometimes lead to surprises for the family. Hudgins explains that is not uncommon to discover situations of non-paternity (mistaken fatherhood) or even to identify instances of “homozygosity”—when parents turn out to be related by blood.
Whole-genome tests may reveal that your child has a change in a gene predisposing him or her to a disease, such as autism. “This does not mean that your child will become autistic,” says Hudgins. “It means that, in large population studies, specific changes in that gene were associated with an increased risk of autism. But it is not a guarantee, as expression of each gene is influenced by a variety of individual factors.” While some results may provoke unfounded worry, others may provide false reassurance.
Most direct-to-consumer genome tests do not have genetic counselors available to interpret results, leaving parents with an enormous amount of information about their child that they cannot interpret on their own. Research-quality testing, interpretation and analysis can take up to 100 hours and cost around $17,000 per person, according to a recent study by Stanford scientists published in the Journal of the American Medical Association. The study also showed that the current technology used for whole-genome sequencing is not yet as accurate as it needs to be.

Answer 2

Tay-sach's disease:- This disease is also known as Infantile amourotic idiocy.

Information about Tay-sach's disease:-

1. This is a genetic disorder.

2. This disease is first seen by Tay and Sac that's why it's name is given as Tay-sach disease.

3. This genetic disorder is due to deficiency of enzyme B-N acetyl hexosaminidase, this enzyme is involved in fat metabolism.