genetic testing

Kaveh is joined by John and Zoe, from the band Portugal The Man to discuss their daughter's rare neurodegenerative disorder and they're joined by Dr. Stan Crooke, who's started the n-Lorem foundation to help find treatments for ultra rare genetic diseases just like this. Take a listen to hear about the struggles of navigating health care for patients and families and the exciting new world of treatments opening up with ASOs (Anti-Sense Oligonucleotides).

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In this "Ask Me Anything" (AMA) episode, Peter delves into the realm of genetics, unraveling its connection to disease and emphasizing the value of understanding one's genetic risks. He elucidates essential background knowledge on genetics before delving into the myriad reasons why individuals might consider genetic testing. Peter differentiates scenarios where genetic testing provides genuine insights from those where it may not be as useful. From there, Peter explores a comprehensive comparison of commercial direct-to-consumer genetic tests, providing insights on interpreting results and identifying the standout options for gaining insights into personal health.

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We discuss:

• Defining the term “genetics” and why it’s important [2:15];
• What is DNA, and how does it impact our biology and traits? [5:45];
• How are genetics passed down from parent to child? [8:45];
• How much do genes vary across individuals? [13:00];
• Which traits are determined by genetics versus experience or environmental factors? [17:00];
• Reasons for genetic testing [22:30];
• What exactly is being measured by a genetic test? [29:15];
• Testing for monogenic disorders [35:15];
• Understanding polygenic risk [39:30];
• Is genetic testing more important for someone who doesn’t know their family history? [40:45];
• What does it mean to be positive for a particular variant? [43:00];
• What does it mean to be negative for a particular variant? [45:45];
• How does someone get genetic testing through their healthcare provider, and how are these tests performed? [48:15];
• The financial cost of various genetic tests [54:30];
• Could having a risk allele for a disease result in an increase in one’s insurance premium? [57:15];
• Other risks associated with genetic testing [59:00];
• How do commercial, direct-to-consumer genetic tests compare to the information one might receive from clinical genetic testing? [1:01:45];
• Are certain direct-to-consumer tests better than others? [1:03:45];
• How long until whole genome sequencing becomes genuinely useful? [1:16:00];
• How useful are personalized dietary recommendations based on genetics? [1:18:15];
• Final thoughts and advice regarding genetic testing [1:20:00]; and
• More.

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When Barb’s father all but left, her mother turned inward, sitting quietly in front of the television, always smoking, often with a cocktail. Something had overtaken her, though it wasn’t clear what.

Six years later, Barb was 20 and in college when someone else in the family needed help. Her sister Christy was the second-born, 24 years older than Barb and the star of the family in many ways. But where once Christy was capable and professionally ambitious and socially conscious, now, at 44, she was alone, her clothes unkempt and ripped, her hair unwashed, her marriage over.

Depression was the first suspected diagnosis, then schizophrenia, though neither seemed quite right. Christy wasn’t sad or delusional; she wasn’t even upset. It was more as if she were reverting to a childlike state, losing her knack for self-regulation. Her personality was diluting — on its way out, with seemingly nothing to replace it.

What was left of Christy was chaotic and unpredictable. She refused to bathe and stopped bothering to make meals. She crashed a neighbor’s party and made odd conversation with strangers. She clogged a toilet with tampons and flooded the house. She was gleefully impulsive, spending thousands of dollars a year on magazine subscriptions. That strange, reckless profligacy made Barb think of their mother, who in her final years sat at home, saying yes to every sales phone call. How heartbreaking but also interesting, Barb thought, that Christy shared the same peculiar tendencies — a family trait of sorts.

This story was recorded by Audm. To hear more audio stories from publications like The New York Times, download Audm for iPhone or Android.

Anne Wojcicki is the cofounder and CEO of 23andMe, which provides direct-to-consumer genetic testing.

Sam Altman is the president of YC Group. He interviewed Anne for a series called How To Build The Future, which you can check out on our YouTube channel.

It's a debate that goes back for centuries.
Are great athletes made or are they born?
In his book, The Sports Gene: Inside the Science of Extraordinary Athletic Performance, journalist David Epstein investigates that question. By looking at cutting edge research, he uncovers how much of nature and how much of nurture contributes to creating world class athletes. It's a fascinating book that offers insight into the nature of athletic ability and gives some food for thought to parents out there signing their kids up for expensive personal coaching in the hopes their tyke will be the next Ted Williams.

You might think that someone with a 50-50 chance of getting a fatal disease would want to know for sure -- but you would be wrong. What does this say about our supposed thirst for certainty?